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VWF c.4630_4631delinsGC ;(p.Y1544A)
Variant ID: 12-6127953-TA-GC
NM_000552.3(
VWF
):c.4630_4631delinsGC;(p.Y1544A)
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:
N-linked glycan stabilization of the VWF A2 domain.
Blood
Lynch, Christopher J CJ; Lane, David A DA
Publication Date: 2016-03-31
Variant appearance in text: VWF: Y1544A
PubMed Link:
26773038
Variant Present in the following documents:
Main text
View BVdb publication page