Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1394F
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VWF

NM_000552.5:p.S1394F

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

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Larsen DM et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development.

Surdhar GK et al.

Blood, 2001

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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."