Associated Papers
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.
Burgel PR et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 2024
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Majed OAK et al.
Molecular Genetics and Genomics : Mgg, 2024
The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia.
Shum BOV et al.
Prenatal Diagnosis, 2023
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST et al.
Genes, 2021
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
Raynal C et al.
Human Mutation, 2013
Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.
Arik E et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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