Article
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2023
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume M-L, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac G Le, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge M-C, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul M-P, Becq F, Fanen P, Mekki C, Audrezet M-P, Girodon E, Raynal C
Abstract excerpt
BACKGROUND: The majority of variants of unknown clinical significance (VUCS) in the CFTR gene are missense variants. While change on the CFTR protein structure or function is often suspected, impact on splicing may be neglected. Such undetected splicing default of variants may complicate the interpretation of genetic analyses and the use of an appropriate pharmacotherapy. METHODS: We selected 15 variants...
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