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MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease‐causing mutations in human mitochondrial aminoacyl‐tRNA synthetases

Numerous mutations in each of the mitochondrial aminoacyl‐tRNA synthetases (aaRSs) have been implicated in human diseases. The mutations are autosomal and recessive and lead mainly to neurological disorders, although with pleiotropic effects. The processes and interactions that drive the etiology of...

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Detalles Bibliográficos
Publicado en:Hum Mutat
Main Authors: Moulinier, Luc, Ripp, Raymond, Castillo, Gaston, Poch, Olivier, Sissler, Marie
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5638098/
https://ncbi.nlm.nih.gov/pubmed/28608363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23277
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