9 results on '"Fanen, Pascale"'
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2. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants
3. Identification of a Novel 5′ AlternativeCFTRmRNA Isoform in a Patient with Nasal Polyposis andCFTRMutations
4. Combined Computational-Experimental Analyses ofCFTRExon Strength Uncover Predictability of Exon-Skipping Level
5. Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies
6. CFTRmutation combinations producing frequent complex alleles with different clinical and functional outcomes
7. Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotype
8. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
9. A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms
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