Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

Novel or rare variants in mitochondrial tRNA sequences may be observed after mitochondrial DNA analysis. Determining whether these variants are pathogenic is critical, but confirmation of the effect of a variant on mitochondrial function can be challenging. We have used available databases of benign...

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Bibliographic Details
Main Authors: Sanjay Sonney, Jeremy Leipzig, Marie T Lott, Shiping Zhang, Vincent Procaccio, Douglas C Wallace, Neal Sondheimer
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-12-01
Series:PLoS Computational Biology
Online Access:https://doi.org/10.1371/journal.pcbi.1005867