5 results on '"Calvo, Sarah"'
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2. Targeted exome sequencing of suspected mitochondrial disorders in a hospital-based cohort
3. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
4. 74 A splice-site mutation in C8orf38 causes impaired Complex I assembly due to a defect in translation or integration of ND1 into an early assembly intermediate
5. 64 Systematic identification of human mitochondrial disease genes through integrative genomics
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