VWF c.2288G>T ;(p.R763M)

Variant ID: 12-6153611-C-A

NM_000552.3(VWF):c.2288G>T;(p.R763M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine
Veyradier, Agnès A; Boisseau, Pierre P; Fressinaud, Edith E; Caron, Claudine C; Ternisien, Catherine C; Giraud, Mathilde M; Zawadzki, Christophe C; Trossaert, Marc M; Itzhar-Baïkian, Nathalie N; Dreyfus, Marie M; d'Oiron, Roseline R; Borel-Derlon, Annie A; Susen, Sophie S; Bezieau, Stéphane S; Denis, Cécile V CV; Goudemand, Jenny J; ,
Publication Date: 2016-03

Variant appearance in text: VWF: Arg763Met
PubMed Link: 26986123
Variant Present in the following documents:
  • Main text
  • medi-95-e3038.pdf
View BVdb publication page