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
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
Cooperativity and flexibility of cystic fibrosis transmembrane conductance regulator transmembrane segments participate in membrane localization of a charged residue.
Carveth K et al.
The Journal of Biological Chemistry, 2002
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