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Showing 1 to 1 of 1 for “"RARS2"”.
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Modelling neuronal mitochondrial aminoacyl-tRNA synthetase defects
… and mitochondrial arginyl-tRNA synthetase (RARS2) cause distinct clinical manifestations including combined oxidative phosphorylation deficiency type 8 (COXPD8), characterised by leukoencephalopathy with ovarian failure, or cardiomyopathy, leukoencephalopathy with thalamus and brainstem …