CFTR c.1330_1331del ;(p.I444*)

Variant ID: 7-117188812-GAT-G

NM_000492.3(CFTR):c.1330_1331del;(p.I444*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1330_1331delAT
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.

The Journal Of Molecular Diagnostics : Jmd
El-Seedy, Ayman A; Dudognon, Tony T; Bilan, Frédéric F; Pasquet, Marie-Claude MC; Reboul, Marie-Pierre MP; Iron, Albert A; Kitzis, Alain A; Ladeveze, Véronique V
Publication Date: 2009-09

Variant appearance in text: CFTR: 1328_1329delAT
PubMed Link: 19710401
Variant Present in the following documents:
  • Main text
View BVdb publication page