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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Detalles Bibliográficos
Autores principales: Sonney, Sanjay, Leipzig, Jeremy, Lott, Marie T., Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Sondheimer, Neal
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/PMC5739504/
https://www.ncbi.nlm.nih.gov/pubmed/29227991
http://dx.doi.org/10.1371/journal.pcbi.1005867

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