Article

RNA sequencing resolves cryptic pathogenic variants in mitochondrial disease

2026-02-23

Abstract excerpt

<h4>Background</h4> Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA-based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis. RNA sequencing (RNA-seq) provides a complementary layer of evidence by reveal...

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Literature Corpus work: 77bbf47c-535c-53bc-bca4-6d28d8004917
DOI: 10.64898/2026.02.23.26345976

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