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Human Mutation|March 19, 2005
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotypeJérôme Clain, Jacqueline Lehmann-Che, Ingrid Duguépéroux, et al.The Biochemical Journal|March 28, 2008
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesisEmanuela Caci, Antonella Caputo, Alexandre Hinzpeter, et al.British Journal of Pharmacology|August 15, 2025
Peptide CIGB-552 has a synergistic effect on CFTR-F508del when combined with elexacaftor/tezacaftor/ivacaftor triple therapy for cystic fibrosisBenjamin Simonneau, Stéphanie Simon, Bénédicte Duriez, et al.Human Mutation|February 20, 2013
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping levelAbdel Aissat, Alix de Becdelièvre, Lisa Golmard, et al.ERJ Open Research|November 8, 2023
Idiopathic pulmonary fibrosis with benign <i>SFTPC</i> variant and pathogenic <i>MARS1</i> mutations: can't see the forest for the trees!Alice Castaldo, Celine Delestrain, Rémi Diesler, et al.Human Mutation|October 16, 2012
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapiesAlexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, et al.Clinical Case Reports|May 5, 2017
The importance of functional tests to assess the effect of a new <i>CFTR</i> variant when genotype-phenotype correlation is not possibleAlexandre Hinzpeter, Marie-Pierre Reboul, Isabelle Callebaut, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.Clinical Case Reports|December 3, 2019
Unsolved severe chronic rhinosinusitis elucidated by extensive <i>CFTR</i> genotypingFanny Degrugillier, Stéphanie Simon, Abdel Aissat, et al.Journal of the American College of Cardiology|November 26, 2021
Assessing Cardiac Amyloidosis Subtypes by Unsupervised Phenotype Clustering AnalysisLouis Bonnefous, Mounira Kharoubi, Mélanie Bézard, et al.Pageof 8