Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R273P
Back to variants list

VWF

NM_000552.5:p.R273P

Associated Papers

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Pagliari MT et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

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

Yadegari H et al.

Hamostaseologie, 2020

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Borràs N et al.

Haematologica, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."