Associated Papers
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.
Phuong PT et al.
Orphanet Journal of Rare Diseases, 2025
41094464 (PubMed )
Supplement: 13023_2025_4031_MOESM1_ESM.pdf
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype-resolved long-read next generation sequencing.
Dilernia D et al.
Human Mutation, 2022
Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.
Kerschner JL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
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