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F8 c.1784T>G ;(p.F595C)
Variant ID: X-154182286-A-C
NM_000132.3(
F8
):c.1784T>G;(p.F595C)
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:
Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation.
Internal Medicine (Tokyo, Japan)
Yamanouchi, Jun J; Tokumoto, Daiki D; Ikeda, Yuichi Y; Maruta, Masaki M; Kaneko, Masahiko M; Hato, Takaaki T; Yasukawa, Masaki M
Publication Date: 2018-11-01
Variant appearance in text: FVIII: Phe595Cys
PubMed Link:
29877292
Variant Present in the following documents:
Main text
1349-7235-57-3179.pdf
View BVdb publication page