Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1668S
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VWF

NM_000552.5:p.R1668S

Associated Papers

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

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

Yadegari H et al.

Hamostaseologie, 2020

Molecular suitability of the chacma baboon in human-targeted Von Willebrand factor directed studies.

Janse van Rensburg WJ

Journal of Medical Primatology, 2019

Advances in the diagnosis and management of type 1 von Willebrand disease.

Castaman G et al.

Expert Review of Hematology, 2011

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

James PD et al.

Blood, 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."