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Structure: Internal structure identifier : 131047

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Lisa G Riley , Sandra T. Cooper , Peter Hickey , Joëlle Rudinger-Thirion , Matthew Mckenzie et al.
American Journal of Human Genetics, 2010, 87 (1), pp.52-9. ⟨10.1016/j.ajhg.2010.06.001⟩
Journal articles hal-00530056v1