Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial diso...
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_020320.5). RARS2 catalyzes the transfer of L-arginine to its cognate tRNA during the translation of mitochondrially-encod...
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Full title
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_c1565656a57247c794a00bb588623cd0
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c1565656a57247c794a00bb588623cd0
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ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-024-03571-w
