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Rhapsody: predicting the pathogenicity of human missense variants
MOTIVATION: The biological effects of human missense variants have been studied experimentally for decades but predicting their effects in clinical molecular diagnostics remains challenging. Available computational tools are usually based on the analysis of sequence conservation and structural prope...
Autores principales: | Ponzoni, Luca, Peñaherrera, Daniel A, Oltvai, Zoltán N, Bahar, Ivet |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214033/ https://www.ncbi.nlm.nih.gov/pubmed/32101277 http://dx.doi.org/10.1093/bioinformatics/btaa127 |
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