Article

Fatal systemic disorder caused by biallelic variants in FARSA

2022-05-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. <italic>FARSA,</italic> which encodes the α subunit of cytosolic phenylalanyl-tRNA synthetase, was recently reported as a suspected causal gene for multiorgan disorder. This study aimed to validate the pathogenicity of varia...

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Literature Corpus work: 5e33c975-24a6-5aa8-909b-0f5697313e4a
DOI: 10.21203/rs.3.rs-1488290/v1

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