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A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

BACKGROUND: Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of mitochondrial disorders. VARS2 is one of the genes encoding aminoacyl-tRNA synthetases. Recently, an increasing number of pathogenic variants of VARS2 have been reported. CASE PRESENTATION: We report t...

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Detalles Bibliográficos
Autores principales:	Ma, Keze, Xie, Mingyu, He, Xiaoguang, Liu, Guojun, Lu, Xiaomei, Peng, Qi, Zhong, Baimao, Li, Ning
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247698/ https://www.ncbi.nlm.nih.gov/pubmed/30458719 http://dx.doi.org/10.1186/s12881-018-0689-3

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