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VWF c.4378C>T ;(p.L1460F)
Variant ID: 12-6128206-G-A
NM_000552.3(
VWF
):c.4378C>T;(p.L1460F)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: VWF: L1460F
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.
The Journal Of Biological Chemistry
Blenner, Mark A MA; Dong, Xianchi X; Springer, Timothy A TA
Publication Date: 2014-02-28
Variant appearance in text: VWF: L1460F
PubMed Link:
24391089
Variant Present in the following documents:
Main text
View BVdb publication page