Publication | Closed Access

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

Molecular DiagnosesNext GenerationSequencingMitochondrial FunctionMedicineGeneticsGenetic EpidemiologyPediatricsDisease Gene IdentificationGenomicsPathogenic VariantsMolecular DiagnosticsBioinformaticsVariant Interpretation