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VWF c.3827T>G ;(p.L1276R)
Variant ID: 12-6128757-A-C
NM_000552.3(
VWF
):c.3827T>G;(p.L1276R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Origin and timing of de novo variants implicated in type 2 von Willebrand disease.
Journal Of Cellular And Molecular Medicine
Chen, Ming M; Shen, Ming-Ching MC; Chang, Shun-Ping SP; Ma, Gwo-Chin GC; Huang, Ying-Chih YC; Lin, Ching-Yeh CY
Publication Date: 2022-11
Variant appearance in text: VWF: Leu1276Arg
PubMed Link:
36226571
Variant Present in the following documents:
Main text
JCMM-26-5403.pdf
View BVdb publication page
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Thrombosis Journal
Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN
Publication Date: 2016
Variant appearance in text: VWF: Leu1276Arg
PubMed Link:
27766062
Variant Present in the following documents:
Main text
12959_2016_Article_92.pdf
View BVdb publication page