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 › EXCEPTIONAL
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
The true panel of cystic fibrosis mutations in the Sicilian population.
Chamayou S et al.
Bmc Medical Genetics, 2020
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
Hamdi Y et al.
Journal of Translational Medicine, 2018
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