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CFTR c.1315C>G ;(p.P439A)
Variant ID: 7-117188800-C-G
NM_000492.3(
CFTR
):c.1315C>G;(p.P439A)
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:
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: P439A
PubMed Link:
30498130
Variant Present in the following documents:
Main text
EMBJ-38-e100101.pdf
View BVdb publication page