Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1566*
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VWF

NM_000552.5:p.R1566*

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

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

The severe von Willebrand disease variant p.M771V leads to impaired anterograde trafficking of von Willebrand factor in patient-derived and base-edited endothelial colony-forming cells.

Bär I 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

Patients with von Willebrand disease in China: Results of an online survey.

Yang W et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.

Christopherson PA et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.

Naveed MA et al.

Genes, 2022

Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Lapić I et al.

Croatian Medical Journal, 2022

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Two cases of von Willebrand disease type 3 in consanguineous Chinese families.

Wang X et al.

Molecular Genetics & Genomic Medicine, 2020

Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.

Elayaperumal S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Lavin M et al.

Blood, 2017

Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.

Michiels JJ et al.

Acta Haematologica, 2009

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.

Kakela JK et al.

Molecular Genetics and Metabolism, 2006

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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."