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VWF c.4372T>G ;(p.C1458G)
Variant ID: 12-6128212-A-C
NM_000552.3(
VWF
):c.4372T>G;(p.C1458G)
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 molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.
Proteins
Tischer, Alexander A; Madde, Pranathi P; Blancas-Mejia, Luis M LM; Auton, Matthew M
Publication Date: 2014-05
Variant appearance in text: VWF: C1458G
PubMed Link:
24265179
Variant Present in the following documents:
Main text
View BVdb publication page