Article

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants

2023-10-09

Abstract excerpt

Variants in the cystic fibrosis transmembrane conductance regulator gene ( CFTR ) result in cystic fibrosis – a lethal autosomal recessive disorder. Missense variants that alter a single amino acid in the CFTR protein are among the most common cystic fibrosis variants, yet tools for accurately predicting molecular consequences of missense variants have been limited to date. AlphaMissense (AM) is a new technology...

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Literature Corpus work: 85eaeff0-f019-5e29-ba08-482a5006c03f
DOI: 10.1101/2023.10.05.561147

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