Associated Papers
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
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
32971794 (PubMed )
Supplement: jpm-10-00140-s001.pdf
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Tian X et al.
Human Genome Variation, 2016
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