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Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors

MOTIVATION: Next Generation Sequencing technologies make it possible to detect rare genetic variants in individual patients. Currently, more than a dozen software and web services have been created to predict the pathogenicity of variants related with changing of amino acid residues. Despite conside...

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Detalles Bibliográficos
Autores principales:	Zadorozhny, Anton, Smirnov, Anton, Filimonov, Dmitry, Lagunin, Alexey
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Original Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435372/ https://www.ncbi.nlm.nih.gov/pubmed/37535750 http://dx.doi.org/10.1093/bioinformatics/btad484

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