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VWF c.1686del ;(p.Q563Rfs*14)
Variant ID: 12-6167058-GC-G
NM_000552.3(
VWF
):c.1686del;(p.Q563Rfs*14)
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:
Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression.
Blood Transfusion = Trasfusione Del Sangue
Daidone, Viviana V; Bury, Loredana L; Milan, Marta M; Galletta, Eva E; Gresele, Paolo P; Casonato, Alessandra A
Publication Date: 2017-09
Variant appearance in text: VWF: 1686delG
PubMed Link:
27416581
Variant Present in the following documents:
Main text
View BVdb publication page