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Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants

Mutations in cystic fibrosis transmembrane conductance regulator (CFTR) result in cystic fibrosis – a lethal genetic disease. Missense mutations that alter a single amino acid in the CFTR protein are among the most common cystic fibrosis mutations. AlphaMissense (AM) is a new technology that predict...

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Detalles Bibliográficos
Autores principales:	McDonald, Eli Fritz, Oliver, Kathryn E., Schlebach, Jonathan P., Meiler, Jens, Plate, Lars
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592606/ https://www.ncbi.nlm.nih.gov/pubmed/37873426 http://dx.doi.org/10.1101/2023.10.05.561147

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