Article

Challenging mtDNA tRNA Variant Guidelines: Emphasizing Single-Cell Analysis through Four Novel Variants

2025-11-22

Abstract excerpt

The broad clinical and genetic heterogeneity of mitochondrial diseases makes diagnosis challenging. Accurate characterization of novel variants is crucial to reduce diagnostic uncertainty, guide treatment, and enable reliable genetic counseling. In this study, we validated a single-cell NGS-based analysis approach by comparison with conventional PCR-RFLP and applied it to five mtDNA VUS identified in patients eval...

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Literature Corpus work: 82d1f358-2e78-522b-81a3-6b2456dd07dc
DOI: 10.1101/2025.11.19.25339649

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