CFTR c.4139del ;(p.T1380Nfs*4)

Variant ID: 7-117305515-AC-A

NM_000492.3(CFTR):c.4139del;(p.T1380Nfs*4)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology
Tümmler, Burkhard B
Publication Date: 2023

Variant appearance in text: CFTR: 4139delC
PubMed Link: 37025483
Variant Present in the following documents:
  • Main text
  • fphar-14-1158207.pdf
View BVdb publication page



Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

The Journal Of Biological Chemistry
Haggie, Peter M PM; Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Xu, Haijin H; Avramescu, Radu G RG; Perdomo, Doranda D; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Lukacs, Gergely L GL; Verkman, Alan S AS
Publication Date: 2017-01-20

Variant appearance in text: CFTR: 4139delC
PubMed Link: 27895116
Variant Present in the following documents:
  • Main text
View BVdb publication page