Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M498V
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CFTR

NM_000492.4:p.M498V

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-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

Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.

Montiel-Gonzalez MF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

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