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Predicting the pathogenicity of missense variants using features derived from AlphaFold2
MOTIVATION: Missense variants are a frequent class of variation within the coding genome, and some of them cause Mendelian diseases. Despite advances in computational prediction, classifying missense variants into pathogenic or benign remains a major challenge in the context of personalized medicine...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10203375/ https://www.ncbi.nlm.nih.gov/pubmed/37084271 http://dx.doi.org/10.1093/bioinformatics/btad280 |