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
Autores principales: Moulinier, Luc, Ripp, Raymond, Castillo, Gaston, Poch, Olivier, Sissler, Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638098/
https://www.ncbi.nlm.nih.gov/pubmed/28608363
http://dx.doi.org/10.1002/humu.23277

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