Associated Papers
Molecular and pharmacological evaluation of rare, cystic fibrosis-causing missense mutations of the CFTR channel.
Závoti O et al.
The Journal of Physiology, 2025
To conquer cystic fibrosis: One genotype each time.
Gao X
The Journal of Physiology, 2025
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
[Genetic revision of the Hungarian Cystic Fibrosis Registry].
Deák A et al.
Orvosi Hetilap, 2022
Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.
Cheng H et al.
Journal of Assisted Reproduction and Genetics, 2022
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
Ivády G et al.
Bmc Genomics, 2018
Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.
Ivády G et al.
Journal of Medical Biochemistry, 2015
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