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VWF c.3050_3108del ;(p.D1017Gfs*12)
Variant ID: 12-6135072-CTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGT-C
NM_000552.3(
VWF
):c.3050_3108del;(p.D1017Gfs*12)
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:
The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.
Haematologica
Hampshire, Daniel J DJ; Goodeve, Anne C AC
Publication Date: 2011-06
Variant appearance in text: VWF: Glu990_Lys1036del
PubMed Link:
21632843
Variant Present in the following documents:
Main text
View BVdb publication page