Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Q793R
Back to variants list

VWF

NM_000552.5:p.Q793R

Associated Papers

Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease.

Meyer D et al.

Thrombosis and Haemostasis, 1997

A monoclonal antibody (B724) to von Willebrand factor recognizing an epitope within the A1 disulphide loop (Cys509-Cys695) discriminates between type 2A and type 2B von Willebrand disease.

Christophe O et al.

British Journal of Haematology, 1995

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."