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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
P.TYR1381X: Are We Facing a New Mutation of CFTR in a Patient With Severe Cystic Fibrosis?
Pereiro-Brea T et al.
Archivos De Bronconeumologia, 2020
V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.
Fernández-Lorenzo AE et al.
Medicine, 2018
Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening.
Molinski SV et al.
Journal of Biomolecular Screening, 2015
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