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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

RepositoryUniversity of Melbourne [Minerva Access]
URLhttp://hdl.handle.net/11343/213973
Author(s)orcid:0000-0003-0589-0703; orcid:0000-0002-8431-0641; Riley, LG; Menezes, MJ; Rudinger-Thirion, J; Duff, R; de Lonlay, P; Rotig, A; Tchan, MC; Davis, M; Cooper, ST; Christodoulou, J
Item typeArticle
JournalOrphanet Journal of Rare Diseases, Online_ISSN:1750-1172
DOIhttps://doi.org/10.1186/1750-1172-8-193

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