Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1426C
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VWF

NM_000552.5:p.R1426C

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

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

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

Combined effects of two mutations in von Willebrand disease 2M phenotype.

Woods AI et al.

Research and Practice in Thrombosis and Haemostasis, 2018

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

Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.

Blenner MA et al.

The Journal of Biological Chemistry, 2014

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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."