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
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
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1B
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Rueda-Nieto S et al.
Orphanet Journal of Rare Diseases, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM3_ESM.xls › TableS2
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S et al.
Human Mutation, 2011
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
Farkas DH et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
Krasnov KV et al.
Human Mutation, 2008
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