Associated Papers
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT et al.
Plos Genetics, 2020
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
Prach L et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Novel CFTR mutations in black cystic fibrosis patients.
Feuillet-Fieux MN et al.
Clinical Genetics, 2004
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