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VWF c.730_736del ;(p.E244Lfs*211)
Variant ID: 12-6184639-AAAGGCTC-A
NM_000552.3(
VWF
):c.730_736del;(p.E244Lfs*211)
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:
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Plos One
Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P
Publication Date: 2016
Variant appearance in text: VWF: E244Lfs*211
PubMed Link:
27532107
Variant Present in the following documents:
Main text
pone.0161310.pdf
View BVdb publication page