Article

A pair of compound heterozygous IARS2 variants manifesting West syndrome and electrolyte disorders in a Chinese patient

2023-09-01

Abstract excerpt

<h4>Background: </h4> Aminoacyl -tRNA synthetases (ARSs) are evolutionarily conserved enzymes that ensure the accuracy of the translation process. Isoleucyl-tRNA synthetase 2 ( IARS2 ) gene is a type of ARS that encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease which involves a number of patients presenting broad clinical phenotypes. T...

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Literature Corpus work: 43c0c693-007f-50a3-800d-ca643c0536ca
DOI: 10.21203/rs.3.rs-3305149/v1

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