CFTR c.1198_1199delinsGC ;(p.F400A)

Variant ID: 7-117182151-TT-GC

NM_000492.3(CFTR):c.1198_1199delinsGC;(p.F400A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal
Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L
Publication Date: 2019-01-15

Variant appearance in text: CFTR: F400A
PubMed Link: 30498130
Variant Present in the following documents:
  • Main text
  • EMBJ-38-e100101.pdf
View BVdb publication page