Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C858W
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VWF

NM_000552.5:p.C858W

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

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

Kim HJ et al.

Annals of Laboratory Medicine, 2019

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.

Shim YJ et al.

Pediatric Blood & Cancer, 2018

Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Wang QY et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Investigation of von Willebrand factor gene mutations in Korean von Willebrand disease patients.

Song J et al.

The Korean Journal of Laboratory Medicine, 2007

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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."