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VWF c.6770G>C ;(p.C2257S)
Variant ID: 12-6101013-C-G
NM_000552.3(
VWF
):c.6770G>C;(p.C2257S)
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 genetics of von Willebrand disease.
Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12
Variant appearance in text: VWF: C2257S
PubMed Link:
24385719
Variant Present in the following documents:
Main text
TJH-29-313.pdf
View BVdb publication page