Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Y271*
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VWF

NM_000552.5:p.Y271*

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

A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.

Liang Q et al.

Thrombosis Research, 2024

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

The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Bowman M et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

[The phenotypic and genotypic diagnosis of three Chinese patients with von Willebrand disease].

Jiang LL et al.

Zhonghua Nei Ke Za Zhi, 2012

Expanded phenotype-genotype correlations in a pediatric population with type 1 von Willebrand disease.

Robertson JD et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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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."