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Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.Pageof 10