Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G839delFs
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VWF

NM_000552.5:p.G839delFs

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

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

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Baronciani L et al.

Blood Advances, 2021

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

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

Lavin M et al.

Blood, 2017

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.

Sutherland MS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

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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."