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F8 c.1587A>T ;(p.K529N)
Variant ID: X-154185397-T-A
NM_000132.3(
F8
):c.1587A>T;(p.K529N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02
Variant appearance in text: F8: K529N
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Activation of a paramyxovirus fusion protein is modulated by inside-out signaling from the cytoplasmic tail.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Waning, David L DL; Russell, Charles J CJ; Jardetzky, Theodore S TS; Lamb, Robert A RA
Publication Date: 2004-06-22
Variant appearance in text: HEMA: K529N
PubMed Link:
15197264
Variant Present in the following documents:
Main text
View BVdb publication page