Associated Papers
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
30321405 (PubMed )
Supplement: gky979_supplemental_files.zip › Corrigendum_supplementary_table.xlsx › AllData
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
29750258 (PubMed )
Supplement: gky372_supplemental_files.zip › SPiCE_table_supp.R2.xlsx › Table_S3
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
Ramos MD et al.
Clinical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
Scott A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
Kinnunen S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005
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