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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles
hal-02118688v1
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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.American Journal of Human Genetics, 2010, 87 (1), pp.52-9. ⟨10.1016/j.ajhg.2010.06.001⟩
Journal articles
hal-00530056v1
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