Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
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 predictin...
| Huvudupphovsmän: | , , , , |
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| Materialtyp: | Artikel |
| Språk: | English |
| Publicerad: |
Public Library of Science (PLoS)
2024-01-01
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| Serie: | PLoS ONE |
| Länkar: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0297560&type=printable |