Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V794_L796delFs
Back to variants list

CFTR

NM_000492.4:p.V794_L796delFs

Associated Papers

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.

Burgel PR et al.

Eclinicalmedicine, 2025

Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.

Mei-Zahav M et al.

Erj Open Research, 2025

39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf

Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients.

Lenarduzzi S et al.

Genetics and Molecular Research : Gmr, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."