Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.A1461D
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VWF

NM_000552.5:p.A1461D

Associated Papers

Characterization of VWF gene conversions causing von Willebrand disease.

Ahmad F et al.

British Journal of Haematology, 2019

Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

Interlandi G et al.

The Journal of Biological Chemistry, 2017

A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.

Deng W et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Muramatsu H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 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."