Article

nAPOGEE: A machine-learning platform for clinically actionable pathogenicity assessment of all mitochondrial noncoding variants

2025-12-23

Abstract excerpt

Mitochondrial noncoding variants, particularly those in tRNA and rRNA genes, pose significant challenges for clinical interpretation due to heteroplasmy, broad phenotypic heterogeneity where symptoms can overlap with other conditions, and the limited availability of well-established genotype-phenotype correlations. Despite their central role in mitochondrial translation, these variants have remained largely unexpl...

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Literature Corpus work: 3fc18ad1-141c-5d6a-b3df-ae9338c66fba
DOI: 10.64898/2025.12.20.695671

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