Exon identity influences splicing induced by exonic variants and in silico prediction efficacy
Author:
Funder
French CF Foundation
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health
Reference30 articles.
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2. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations;Veit;Mol Biol Cell,2016
3. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene;Bergougnoux;J Cyst Fibros,2019
4. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells;Maquat;RNA,1995
5. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene;Aznarez;Hum Mol Genet,2003
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