Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease

This study contributes to the lacking knowledge on MD aetiology in an understudied, ethnically diverse population, highlights inconsistencies in genotype-phenotype correlations, and proposes future directions of diagnostic approaches in such patient populations.
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research