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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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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Vitale, Ornella, Preste, Roberto, Palmisano, Donato, Attimonelli, Marcella
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2019
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Online Access: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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