Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Ahmad Alodaib, Nara Sobreira, Wendy A. Gold, Lisa G. Riley, Nicole J. Van Bergen, Meredith J. Wilson, Bruce Bennetts, David R. Thorburn, Corinne Boehm, John Christodoulou

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Medicine & Life Sciences