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Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2

BACKGROUND: As a rare mitochondrial disease, combined oxidative phosphorylation deficiency 14 (COXPD14) is caused by biallelic variants in the phenylalanyl-tRNA synthetase 2, mitochondrial gene (FARS2) with clinical features of developmental delay, an elevated lactate level, early-onset encephalopat...

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Detalles Bibliográficos
Autores principales:	Li, Liangshan, Ma, Jianhua, Wang, Jingli, Dong, Liping, Liu, Shiguo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511728/ https://www.ncbi.nlm.nih.gov/pubmed/36155627 http://dx.doi.org/10.1186/s40001-022-00808-7

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