Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R169Q
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ITGB3

NM_000212.3:p.R169Q

Associated Papers

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Ross JE et al.

Blood Advances, 2021

Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.

Meng P et al.

Molecular Genetics & Genomic Medicine, 2019

31386309 (PubMed )
Supplement: MGG3-7-e714-s001.pdf

Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.

Guz K et al.

Polish Archives of Internal Medicine, 2017

Frequency of human platelet antigens in oncohematological patients with thrombocytopenia and the probability of incompatibility to platelet transfusions.

Bianchi JV et al.

Revista Brasileira De Hematologia E Hemoterapia, 2012

Human platelet antigen allele frequencies and new mutations on platelet glycoprotein genes in the Chinese Han population.

Xu X et al.

Transfusion Medicine (oxford, England), 2011

Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.

Xu X et al.

Vox Sanguinis, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Molecular typing of human platelet antigens in immune thrombocytopenia patients in northern Brazil.

Carmo JCD et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

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