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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...

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Bibliographic Details
Published in:Bioinformatics
Main Authors: Ponzoni, Luca, Peñaherrera, Daniel A, Oltvai, Zoltán N, Bahar, Ivet
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7214033/
https://ncbi.nlm.nih.gov/pubmed/32101277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa127
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