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High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

24,189 are all the possible non-synonymous amino acid changes potentially affecting the human mitochondrial DNA. Only a tiny subset was functionally evaluated with certainty so far, while the pathogenicity of the vast majority was only assessed in-silico by software predictors. Since these tools pro...

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Detalles Bibliográficos
Autores principales:	Castellana, Stefano, Fusilli, Caterina, Mazzoccoli, Gianluigi, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Vescovi, Angelo Luigi, Mazza, Tommaso
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501658/ https://www.ncbi.nlm.nih.gov/pubmed/28640805 http://dx.doi.org/10.1371/journal.pcbi.1005628

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