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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
Research output: Contribution to journal › Article › peer-review
16
Scopus
citations