Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S776*
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CFTR

NM_000492.4:p.S776*

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

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

des Georges M et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M et al.

Human Mutation, 2000

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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."