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VWF c.8247C>A ;(p.Y2749*)
Variant ID: 12-6058958-G-T
NM_000552.3(
VWF
):c.8247C>A;(p.Y2749*)
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:
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.
Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2018-01
Variant appearance in text: VWF: 8247C>A; Y2749*
PubMed Link:
31249928
Variant Present in the following documents:
Main text
10-1055-s-0037-1618571.pdf
View BVdb publication page