Bibliome.ai browser hg19
Search
About
Stats
FAQ
VWF c.3614G>T ;(p.R1205L)
Variant ID: 12-6131126-C-A
NM_000552.3(
VWF
):c.3614G>T;(p.R1205L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: Arg1205Leu
PubMed Link:
26986123
Variant Present in the following documents:
Main text
medi-95-e3038.pdf
View BVdb publication page