Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Q1402P
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VWF

NM_000552.5:p.Q1402P

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

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

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

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

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

Von Willebrand disease mutation spectrum and associated mutation mechanisms.

de Jong A et al.

Thrombosis Research, 2017

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

Crucial role for the VWF A1 domain in binding to type IV collagen.

Flood VH et al.

Blood, 2015

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

Translational medicine advances in von Willebrand disease.

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2013

The molecular characterization of von Willebrand disease: good in parts.

James PD et al.

British Journal of Haematology, 2013

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