Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

Exhaustive and complete evaluation of pathological traits is crucial to understanding genetic ailments, performing exact prognosis and prescribing customized remedies. It’s notably necessary for illness cohorts, as completely detailed phenotypic profiles enable sufferers to be in contrast and contrasted. Nevertheless, many illness cohorts comprise sufferers which have been ascribed low numbers of very common and comparatively uninformative phenotypes. We current Cohort Analyzer, a device that measures the phenotyping high quality of affected person cohorts.
It calculates a number of statistics to provide a common overview of the cohort standing when it comes to the depth and breadth of phenotyping, permitting us to detect much less well-phenotyped sufferers for re-examining or excluding from additional analyses. As well as, it performs clustering evaluation to seek out subgroups of sufferers that share comparable phenotypic profiles.
We used it to analyse three cohorts of genetic ailments sufferers with very totally different properties. We discovered that cohorts with probably the most particular and full phenotypic characterization give extra potential insights into the illness than those who have been much less deeply characterised by forming extra informative clusters.
For 2 of the cohorts, we additionally analysed genomic information associated to the sufferers, and linked the genomic information to the patient-subgroups by mapping shared variants to genes and capabilities. The work highlights the necessity for improved phenotyping on this period of customized medication. The device itself is freely accessible alongside a workflow to permit the analyses proven on this work to be utilized to different datasets.

Focused Excessive-Decision Taxonomic Identification of Bifidobacterium longum subsp. infantis Utilizing Human Milk Oligosaccharide Metabolizing Genes

Bifidobacterium longum subsp. infantis (B. infantis) is one of some microorganisms able to metabolizing human breast milk and is a pioneer colonizer within the guts of breastfed infants. One present problem is differentiating B. infantis from its shut family, B. longum and B. suis. All three organisms are categorised in the identical species group however solely B. infantis can metabolize human milk oligosaccharides (HMOs).
We in contrast HMO-metabolizing genes throughout totally different Bifidobacterium genomes and developed B. infantis-specific primers to find out if the genes alone or the primers can be utilized to rapidly characterize B. infantis. We confirmed that B. infantis is uniquely recognized by the presence of 5 HMO-metabolizing gene clusters, examined for its prevalence in toddler intestine metagenomes, and validated the outcomes utilizing the B. infantis-specific primers.
We noticed that solely 15 of 203 (7.4%) youngsters underneath 2 years previous from a cohort of US youngsters harbored B. infantis. These outcomes spotlight the significance of creating and enhancing approaches to determine B. infantis. A extra correct characterization might present insights into regional variations of B. infantis prevalence in toddler intestine microbiota.
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

Proof of Gene Doping in a Mouse Mannequin with a Human Erythropoietin Gene Transferred Utilizing an Adenoviral Vector

Regardless of the World Anti-Doping Company (WADA) ban on gene doping within the context of developments in gene remedy, the chance of EPO gene-based doping amongst athletes remains to be current. To handle this and comparable dangers, gene-doping checks are being developed in doping management laboratories worldwide.
On this regard, the current examine was carried out with two targets: to develop a sturdy gene-doping mouse mannequin with the human EPO gene (hEPO) transferred utilizing recombinant adenovirus (rAdV) as a vector and to develop a detection technique to determine gene doping by utilizing this mannequin.
The rAdV together with the hEPO gene was injected intravenously to switch the gene to the liver. After injection, the mice confirmed considerably elevated whole-blood crimson blood cell counts and elevated expression of hematopoietic marker genes within the spleen, indicating profitable growth of the gene-doping mannequin.
Subsequent, direct and probably oblique proof of gene doping have been evaluated in whole-blood DNA and RNA by utilizing a quantitative PCR assay and RNA sequencing. Proof of doping may very well be detected in DNA and RNA samples from one drop of entire blood for roughly a month; moreover, the general RNA expression profiles confirmed important modifications, permitting superior detection of hEPO gene doping.

Complete Genetic Evaluation of DGAT2 Mutations and Gene Expression Patterns in Human Cancers

DGAT2 is a transmembrane protein encoded by the DGAT2 gene that capabilities in lipid metabolism, triacylglycerol synthesis, and lipid droplet regulation. Most cancers cells exhibit altered lipid metabolism and mutations in DGAT2 might contribute to this state.
Utilizing information from the Catalogue of Somatic Mutations in Most cancers (COSMIC), we analyzed all most cancers genetic DGAT2 alterations, together with mutations, copy quantity variations and gene expression. We discover that a number of DGAT2 mutations fall throughout the catalytic website of the enzyme. Utilizing the Variant Impact Scoring Instrument (VEST), we determine a number of mutations with a excessive probability of contributing to mobile transformation.
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
We additionally discovered that D222V is a mutation hotspot neighboring a beforehand found Y223H mutation that causes Axonal Charcot-Marie-Tooth illness. Remarkably, Y223H has not been detected in cancers, suggesting that it’s inhibitory to most cancers development.
We additionally determine a number of single nucleotide polymorphisms (SNP) with excessive VEST scores, indicating that sure alleles in human populations have a pathogenic predisposition. Most mutations don’t correlate with a change in gene expression, neither is gene expression depending on excessive allele copy quantity.

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody

20-abx241846
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Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody

abx104662-100g 100 µg
EUR 750

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody

abx104662-20g 20 µg
EUR 275

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody

abx104662-50g 50 µg
EUR 337.5

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Antibody

abx128303-100l 100 µl
EUR 275

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Antibody

abx128303-1ml 1 ml
EUR 750

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Antibody

abx128303-200l 200 µl
EUR 337.5

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody

abx213998-100l 100 µl
EUR 250

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody

abx241846-96tests 96 tests
EUR 250

SNAP Associated Protein

20-abx260460
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  • 10 ug
  • 1 mg
  • 50 ug

SNAP Associated Protein

abx260460-10g 10 µg
EUR 325

SNAP Associated Protein

abx260460-2g 2 µg
EUR 225

Recombinant Vesicle Associated Membrane Protein Associated Protein A (VAPA)

RPF566Hu01 10ug
EUR 128

Recombinant Vesicle Associated Membrane Protein Associated Protein A (VAPA)

4-RPF566Hu01
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  • 5 mg
Description: Recombinant Human Vesicle Associated Membrane Protein Associated Protein A expressed in: E.coli

Recombinant Vesicle Associated Membrane Protein Associated Protein B (VAPB)

RPF569Hu01 10ug
EUR 172

Recombinant Vesicle Associated Membrane Protein Associated Protein B (VAPB)

4-RPF569Hu01
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Description: Recombinant Human Vesicle Associated Membrane Protein Associated Protein B expressed in: E.coli

Recombinant Vesicle Associated Membrane Protein Associated Protein B (VAPB)

RPU52714-100ug 100ug
EUR 530.2

Recombinant Vesicle Associated Membrane Protein Associated Protein B (VAPB)

RPU52714-1mg 1mg
EUR 2347.8

Recombinant Vesicle Associated Membrane Protein Associated Protein B (VAPB)

RPU52714-50ug 50ug
EUR 425.7

Recombinant Vesicle Associated Membrane Protein Associated Protein A (VAPA)

RPU44346-100ug 100ug
EUR 393.8

Recombinant Vesicle Associated Membrane Protein Associated Protein A (VAPA)

RPU44346-1mg 1mg
EUR 1747.2

Recombinant Vesicle Associated Membrane Protein Associated Protein A (VAPA)

RPU44346-50ug 50ug
EUR 316.8

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody (Biotin)

20-abx272557
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Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody (Biotin)

abx272557-1ml 1 ml
EUR 825

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Antibody (Biotin)

abx272557-200l 200 µl
EUR 362.5

Receptor Associated Protein

20-abx261721
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  • 1 mg
  • 20 ug
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Receptor Associated Protein

abx261721-10g 10 µg
EUR 3650

Receptor Associated Protein

abx261721-2g 2 µg
EUR 225

Receptor Associated Protein

abx261721-5g 5 µg
EUR 325

HSPB Associated Protein 1 Protein

20-abx263199
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HSPB Associated Protein 1 Protein

abx263199-10mg 10 mg
EUR 325

HSPB Associated Protein 1 Protein

abx263199-25mg 25 mg
EUR 1487.5

HSPB Associated Protein 1 Protein

abx263199-5mg 5 mg
EUR 225

Cartilage Associated Protein

20-abx263406
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  • 100 ug
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  • 2 µg

Cartilage Associated Protein

abx263406-1mg 1 mg
EUR 225

Cartilage Associated Protein

abx263406-2mg 2 mg
EUR 325

Cartilage Associated Protein

abx263406-5mg 5 mg
EUR 1600

PDGFA Associated Protein 1 Protein

20-abx261987
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  • 1 mg
  • 20 ug
  • 5 ug

PDGFA Associated Protein 1 Protein

abx261987-10mg 10 mg
EUR 325

PDGFA Associated Protein 1 Protein

abx261987-25mg 25 mg
EUR 4625

PDGFA Associated Protein 1 Protein

abx261987-5mg 5 mg
EUR 225

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody

CAU22443-100ul 100ul
EUR 235.2

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody

CAU22443-200ul 200ul
EUR 294

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Polyclonal Antibody

CAU22444-100ul 100ul
EUR 235.2

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Polyclonal Antibody

CAU22444-200ul 200ul
EUR 294

Growth Associated Protein 43 Protein

20-abx263285
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  • 2 µg

Growth Associated Protein 43 Protein

abx263285-10mg 10 mg
EUR 325

Growth Associated Protein 43 Protein

abx263285-25mg 25 mg
EUR 1600

Growth Associated Protein 43 Protein

abx263285-5mg 5 mg
EUR 225

Polyclonal Antibody to Vesicle Associated Membrane Protein Associated Protein A (VAPA)

PAF566Hu01 100ul
EUR 245

Polyclonal Antibody to Vesicle Associated Membrane Protein Associated Protein B (VAPB)

PAF569Hu01 100ul
EUR 245

Bcl2 Associated X Protein (BAX) Protein

abx262302-10mg 10 mg
EUR 6087.5

Bcl2 Associated X Protein (BAX) Protein

abx262302-5mg 5 mg
EUR 325

Bcl2 Associated X Protein (BAX) Protein

abx262318-10mg 10 mg
EUR 325

Bcl2 Associated X Protein (BAX) Protein

abx262318-25mg 25 mg
EUR 6087.5

Bcl2 Associated X Protein (BAX) Protein

abx262318-5mg 5 mg
EUR 225

Rat CD2 Associated Protein (CD2AP) Protein

20-abx065840
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  • 100 ug
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Rat CD2 Associated Protein (CD2AP) Protein

abx065840-100g 100 µg
EUR 587.5

Rat CD2 Associated Protein (CD2AP) Protein

abx065840-10g 10 µg
EUR 225

Rat CD2 Associated Protein (CD2AP) Protein

abx065840-50g 50 µg
EUR 412.5

GABA Receptor Associated Protein

RA19014 100 ug
EUR 451.2

Human WT1 Associated Protein (WTAP) Protein

abx693166-10nmol 10 nmol Ask for price

Human WT1 Associated Protein (WTAP) Protein

abx693166-5nmol 5 nmol
EUR 962.5

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody (Human, Mouse)

4-PAF569Hu01
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Description: A Rabbit polyclonal antibody against Human, Mouse Vesicle Associated Membrane Protein Associated Protein B (VAPB)

Human CD2 Associated Protein (CD2AP) Protein

20-abx065841
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  • 100 ug
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Human CD2 Associated Protein (CD2AP) Protein

abx065841-100g 100 µg
EUR 562.5

Human CD2 Associated Protein (CD2AP) Protein

abx065841-10g 10 µg
EUR 225

Human CD2 Associated Protein (CD2AP) Protein

abx065841-50g 50 µg
EUR 387.5

Pig Bcl2 Associated X Protein (Bax) Protein

20-abx652158
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Rat Bcl2 Associated X Protein (Bax) Protein

20-abx652651
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  • 100 ug
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  • 1 mg
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Cow Bcl2 Associated X Protein (Bax) Protein

20-abx652652
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  • 100 ug
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Pig Bcl2 Associated X Protein (BAX) Protein

abx652158-5mg 5 mg
EUR 625

Rat Bcl2 Associated X Protein (BAX) Protein

abx652651-5mg 5 mg
EUR 4525

Cow Bcl2 Associated X Protein (BAX) Protein

abx652652-5mg 5 mg
EUR 5300

anti-ETS1 associated protein II

YF-PA19130 50 ug
EUR 435.6
Description: Mouse polyclonal to ETS1 associated protein II

Human SNAP Associated Protein (SNAPAP) Protein

20-abx650716
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  • 100 ug
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  • 200 ug
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Human SNAP Associated Protein (SNAPAP) Protein

abx650716-5mg 5 mg
EUR 287.5

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody (Human, Mouse), PE

4-PAF569Hu01-PE
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Description: A Rabbit polyclonal antibody against Human, Mouse Vesicle Associated Membrane Protein Associated Protein B (VAPB). This antibody is labeled with PE.

Human Integrin Associated Protein (IAP) Protein

20-abx653896
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  • 100 ug
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Mouse Bcl2 Associated X Protein (Bax) Protein

20-abx065517
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  • 100 ug
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Human Bcl2 Associated X Protein (Bax) Protein

20-abx652157
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  • 100 ug
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  • 1 mg
  • 200 ug
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Mouse Yes Associated Protein 1 (YAP1) Protein

20-abx655544
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  • 100 ug
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  • 1 mg
  • 200 ug
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Mouse Yes Associated Protein 1 (YAP1) Protein

20-abx655545
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  • 100 ug
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  • 1 mg
  • 200 ug
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Mouse Bcl2 Associated X Protein (BAX) Protein

abx065517-100g 100 µg
EUR 387.5

Mouse Bcl2 Associated X Protein (BAX) Protein

abx065517-200g 200 µg
EUR 562.5

Mouse Bcl2 Associated X Protein (BAX) Protein

abx065517-50g 50 µg
EUR 225

Human Bcl2 Associated X Protein (BAX) Protein

abx652157-100g 100 µg
EUR 525

Human Bcl2 Associated X Protein (BAX) Protein

abx652157-10g 10 µg
EUR 212.5

Human Bcl2 Associated X Protein (BAX) Protein

abx652157-50g 50 µg
EUR 375

Mouse Bcl2 Associated X Protein (BAX) Protein

abx652650-1mg 1 mg
EUR 200

Mouse Bcl2 Associated X Protein (BAX) Protein

abx652650-5mg 5 mg
EUR 337.5

Mouse Yes Associated Protein 1 (YAP1) Protein

abx655545-100g 100 µg
EUR 1962.5

Cartilage associated protein antibody

70R-13337 100 ul
EUR 550
Description: Affinity purified Rabbit polyclonal Cartilage associated protein antibody

Human MAX Gene Associated Protein (MgA) Protein

20-abx168688
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  • 100 ug
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  • 1 mg
  • 200 ug
  • 50 ug

Human MAX Gene Associated Protein (MgA) Protein

abx168688-1ml 1 ml
EUR 200

Vesicle Associated Membrane Protein Associated Protein A (VAPA) Polyclonal Antibody (Human, Mouse, Rat)

4-PAF566Hu01
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  • 100ul
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Description: A Rabbit polyclonal antibody against Human, Mouse, Rat Vesicle Associated Membrane Protein Associated Protein A (VAPA)

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody (Human, Mouse), APC

4-PAF569Hu01-APC
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  • 100ul
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  • 1ml
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Description: A Rabbit polyclonal antibody against Human, Mouse Vesicle Associated Membrane Protein Associated Protein B (VAPB). This antibody is labeled with APC.

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody (Human, Mouse), Cy3

4-PAF569Hu01-Cy3
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  • 100ul
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Description: A Rabbit polyclonal antibody against Human, Mouse Vesicle Associated Membrane Protein Associated Protein B (VAPB). This antibody is labeled with Cy3.

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody (Human, Mouse), FITC

4-PAF569Hu01-FITC
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  • 100ul
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Description: A Rabbit polyclonal antibody against Human, Mouse Vesicle Associated Membrane Protein Associated Protein B (VAPB). This antibody is labeled with FITC.

Vesicle Associated Membrane Protein Associated Protein B (VAPB) Polyclonal Antibody (Human, Mouse), HRP

4-PAF569Hu01-HRP
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  • 100ul
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Description: A Rabbit polyclonal antibody against Human, Mouse Vesicle Associated Membrane Protein Associated Protein B (VAPB). This antibody is labeled with HRP.

WT1 Associated Protein (WTAP) Antibody

abx122737-100ug 100 ug
EUR 469.2

Rad51 Associated Protein 1 Antibody

20-abx115017
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  • 150 ul
  • 50 ul

Pdgfa Associated Protein 1 Antibody

20-abx114350
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  • 150 ul
  • 50 ul

WT1 Associated Protein (WTAP) Antibody

abx016143-100ug 100 ug
EUR 493.2

WT1 Associated Protein (WTAP) Antibody

20-abx013612
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  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

WT1 Associated Protein (WTAP) Antibody

abx216419-100ug 100 ug
EUR 526.8

WT1 Associated Protein (WTAP) Antibody

20-abx325851
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  • 100 ug
  • 50 ug

WT1 Associated Protein (WTAP) Antibody

abx331717-100ul 100 ul
EUR 510

WT1 Associated Protein (WTAP) Antibody

abx239529-100ug 100 ug
EUR 610.8

WT1 Associated Protein (WTAP) Antibody

abx239530-100ug 100 ug
EUR 661.2

WT1 Associated Protein (WTAP) Antibody

20-abx318789
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  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

WT1 Associated Protein (WTAP) Antibody

abx013612-100l 100 µl
EUR 43.75

Pdgfa Associated Protein 1 Antibody

abx114350-100l 100 µl
EUR 612.5

Rad51 Associated Protein 1 Antibody

abx115017-100l 100 µl
EUR 612.5

WT1 Associated Protein (WTAP) Antibody

abx122737-100l 100 µl Ask for price

WT1 Associated Protein (WTAP) Antibody

abx122737-20l 20 µl
EUR 337.5

WT1 Associated Protein (WTAP) Antibody

abx122737-50l 50 µl Ask for price

WT1 Associated Protein (WTAP) Antibody

abx016143-1mg 1 mg
EUR 362.5

WT1 Associated Protein (WTAP) Antibody

abx239529-100l 100 µl Ask for price

WT1 Associated Protein (WTAP) Antibody

abx239529-50l 50 µl
EUR 350

WT1 Associated Protein (WTAP) Antibody

abx239530-100l 100 µl Ask for price

WT1 Associated Protein (WTAP) Antibody

abx239530-50l 50 µl
EUR 350

WT1 Associated Protein (WTAP) Antibody

abx325851-100g 100 µg
EUR 250

WT1 Associated Protein (WTAP) Antibody

abx325851-50g 50 µg
EUR 187.5

WT1 Associated Protein (WTAP) Antibody

abx318789-100l 100 µl
EUR 250

WT1 Associated Protein (WTAP) Antibody

abx318789-50l 50 µl
EUR 162.5

Rat Growth Associated Protein 43 (GAP43) Protein

20-abx165990
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  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

ER Lipid Raft Associated 2 Protein

20-abx260968
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  • 1 mg
  • 20 ug
  • 5 ug

ER Lipid Raft Associated 2 Protein

abx260968-10g 10 µg
EUR 325

ER Lipid Raft Associated 2 Protein

abx260968-2g 2 µg
EUR 225

Mouse Cartilage Associated Protein (CRTAP) Protein

20-abx650760
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  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Human Cartilage Associated Protein (CRTAP) Protein

20-abx652787
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  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Human Cartilage Associated Protein (CRTAP) Protein

abx652787-5mg 5 mg
EUR 4525

Mouse Cartilage Associated Protein (CRTAP) Protein

abx650760-5mg 5 mg
EUR 387.5

Death Associated Protein (DAP) Antibody

20-abx109714
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  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

CD2 Associated Protein (CD2AP) Antibody

20-abx111474
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  • 150 ul
  • 50 ul

Death Associated Protein (DAP) Antibody

20-abx112003
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  • 150 ul
  • 50 ul

CD2 Associated Protein (CD2AP) Antibody

20-abx102325
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  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

CD2 Associated Protein (CD2AP) Antibody

20-abx102326
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  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

CD2 Associated Protein (CD2AP) Antibody

20-abx007063
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  • 100 ul
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  • 20 ul
  • 50 ul

Death Associated Protein (DAP) Antibody

abx034849-400ul 400 ul
EUR 627.6

Death Associated Protein (DAP) Antibody

abx034849-80l 80 µl
EUR 343.2

CD2 Associated Protein (CD2AP) Antibody

abx037869-100ug 100 ug
EUR 469.2

CD2 Associated Protein (CD2AP) Antibody

abx038345-100ug 100 ug
EUR 469.2

CD2 Associated Protein (CD2AP) Antibody

abx048477-100ug 100 ug
EUR 469.2

CD2 Associated Protein (CD2AP) Antibody

abx048478-100ug 100 ug
EUR 469.2

Death Associated Protein (DAP) Antibody

20-abx004705
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  • 100 ul
  • 200 ul
  • 20 ul
  • 50 ul

CD2 Associated Protein (CD2AP) Antibody

20-abx210357
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  • 100 ul
  • 50 ul

CD2 Associated Protein (CD2AP) Antibody

20-abx210358
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  • Ask for price
  • 100 ul
  • 50 ul

Death Associated Protein (DAP) Antibody

20-abx213835
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  • 100 ul
  • 50 ul
Nevertheless, we did determine eight alleles with excessive expression ranges, suggesting that no less than in sure circumstances, the surplus DGAT2 gene product shouldn’t be inhibitory to mobile proliferation. This work uncovers unknown capabilities of DGAT2 in cancers and means that its position could also be extra complicated than beforehand appreciated.

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