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F8 c.2221A>T ;(p.S741C)
Variant ID: X-154159844-T-A
NM_000132.3(
F8
):c.2221A>T;(p.S741C)
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:
Thrombin activatable fibrinolysis inhibitor activation and bleeding in haemophilia A.
Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Foley, J H JH; Nesheim, M E ME; Rivard, G E GE; Brummel-Ziedins, K E KE
Publication Date: 2012-05
Variant appearance in text: FVIII: S741C
PubMed Link:
21933309
Variant Present in the following documents:
Main text
View BVdb publication page