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A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information

BACKGROUND: Human mitochondrial DNA has an important role in the cellular energy production through oxidative phosphorylation. Therefore, this process may be the cause and have an effect on mitochondrial DNA mutability, functional alteration, and disease onset related to a wide range of different cl...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Vitale, Ornella, Preste, Roberto, Palmisano, Donato, Attimonelli, Marcella
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005629/
https://ncbi.nlm.nih.gov/pubmed/31821723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1085
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