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.




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