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__genomic_info
CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis.
Martínez-Hernández A et al.
Heliyon, 2024
Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.
Khan HH et al.
Transplantation Proceedings, 2019
Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation.
Eminoglu TF et al.
Indian Journal of Pediatrics, 2013
Select a paper to view details