bibliographic entry 1856815 [be/1856815]
https://w3id.org/oc/corpus/be/1856815
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Bykhovskaya, Y, Casas, K, Mengesha, E, Inbal, A, Fischel-Ghodsian, N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA), Am J Hum Genet, 2004, 74, 1303, 1308, DOI: 10.1086/421530, PMID: 15108122
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