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Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

BACKGROUND: Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS beta subunits (FARSB). Autosomal recessive inheritance of pathogenic...

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Detalles Bibliográficos
Autores principales:	Guo, Ruolan, Chen, Yuanying, Hu, Xuyun, Qi, Zhan, Guo, Jun, Li, Yuchuan, Hao, Chanjuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10571242/ https://www.ncbi.nlm.nih.gov/pubmed/37833669 http://dx.doi.org/10.1186/s12920-023-01662-0

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