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The pathogenicity scoring system for mitochondrial tRNA mutations revisited

Confirming the pathogenicity of mitochondrial tRNA point mutations is one of the classical challenges in the field of mitochondrial medicine. In addition to genetic and functional studies, the evaluation of a genetic change using a pathogenicity scoring system is extremely useful to discriminate bet...

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Detalles Bibliográficos
Autores principales:	González-Vioque, Emiliano, Bornstein, Belén, Gallardo, María Esther, Fernández-Moreno, Miguel Ángel, Garesse, Rafael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley Periodicals, Inc. 2014
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960052/ https://www.ncbi.nlm.nih.gov/pubmed/24689073 http://dx.doi.org/10.1002/mgg3.47

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