EGFR c.473A>G ;(p.N158S)

Variant ID: 7-55214347-A-G

NM_005228.3(EGFR):c.473A>G;(p.N158S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss of Function of KCNC1 is associated with intellectual disability without seizures.

European Journal Of Human Genetics : Ejhg
Poirier, Karine K; Viot, Géraldine G; Lombardi, Laura L; Jauny, Clémence C; Billuart, Pierre P; Bienvenu, Thierry T
Publication Date: 2017-05

Variant appearance in text: EGFR: 473A>G
PubMed Link: 28145425
Variant Present in the following documents:
  • Main text
View BVdb publication page