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Fatal systemic disorder caused by biallelic variants in FARSA

BACKGROUND: Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthetase, was recently reported as a suspected causal gene for multiorgan disord...

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Detalles Bibliográficos
Autores principales:	Kim, Soo Yeon, Ko, Saebom, Kang, Hyunook, Kim, Man Jin, Moon, Jangsup, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Choi, Hee-Jung, Chae, Jong-Hee
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344665/ https://www.ncbi.nlm.nih.gov/pubmed/35918773 http://dx.doi.org/10.1186/s13023-022-02457-9

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