bibliographic entry 1856816 [be/1856816]
https://w3id.org/oc/corpus/be/1856816

is a
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  • Fernandez-Vizarra, E, Berardinelli, A, Valente, L, Tiranti, V, Zeviani, M. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anemia (MLASA), J Med Genet, 2007, 44, 173, 180, DOI: 10.1136/jmg.2006.045252, PMID: 17056637
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