Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1145C
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VWF

NM_000552.5:p.R1145C

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

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

Akimoto T et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

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

Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series.

Casonato A et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2010

Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease.

Sztukowska M et al.

British Journal of Haematology, 2008

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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."