Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.T161M
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GP1BA

NM_000173.7:p.T161M

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

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

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.

Jankovic M et al.

International Journal of Molecular Sciences, 2022

Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.

Čeri A et al.

Croatian Medical Journal, 2020

The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.

Martínez-Magaña JJ et al.

Frontiers in Pharmacology, 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S002

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

29378629 (PubMed )
Supplement: 13073_2018_513_MOESM2_ESM.xlsx › Sheet1

Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia.

Jallu V et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.

Guz K et al.

Polish Archives of Internal Medicine, 2017

Molecular HPA genotyping by microarray in Brazilian blood donors.

Conti F et al.

Transfusion, 2014

Genetic variants that affect platelet function.

Kunicki TJ et al.

Current Opinion in Hematology, 2012

The genetics of common variation affecting platelet development, function and pharmaceutical targeting.

Johnson AD

Journal of Thrombosis and Haemostasis : Jth, 2011

Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders.

Antón AI et al.

Annals of Hematology, 2010

Genome-wide association study of hematological and biochemical traits in a Japanese population.

Kamatani Y et al.

Nature Genetics, 2010

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

Xu X et al.

Vox Sanguinis, 2009

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