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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Bibliografiska uppgifter
I publikationen:PLoS Comput Biol
Huvudupphovsmän: Castellana, Stefano, Fusilli, Caterina, Mazzoccoli, Gianluigi, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Vescovi, Angelo Luigi, Mazza, Tommaso
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2017
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501658/
https://ncbi.nlm.nih.gov/pubmed/28640805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1005628
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