Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R782Q
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VWF

NM_000552.5:p.R782Q

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s002.pdf

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

Von Willebrand disease mutation spectrum and associated mutation mechanisms.

de Jong A et al.

Thrombosis Research, 2017

Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

White-Adams TC et al.

Thrombosis Research, 2016

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

Understanding von Willebrand's disease from gene defects to the patients.

Zhang Z et al.

Journal of Internal Medicine. Supplement, 1997

Effects of the mutant von Willebrand factor gene in von Willebrand disease.

Zhang Z et al.

Human Genetics, 1995

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."