Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Pranke I et al.
Erj Open Research, 2018
29497617 (PubMed )
Supplement: 00080-2017_supp.pdf
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
Krulišová V et al.
European Journal of Pediatrics, 2012
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