Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Q2520*
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VWF

NM_000552.5:p.Q2520*

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

Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.

Akimoto T et al.

Blood Vessels, Thrombosis & Hemostasis, 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

Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Kasatkar P et al.

Plos One, 2014

Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.

Ahmad F et al.

Thrombosis and Haemostasis, 2013

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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."