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
40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin A et al.
Plos One, 2016
Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.
El-Seedy A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013
Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.
El-Seedy A et al.
The Journal of Molecular Diagnostics : Jmd, 2009
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