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Article

A systematic review on the biochemical threshold of mitochondrial genetic variants.

Genome research - 25 Apr 2024

Smith Karan K, Moreira Jesse D, Wilson Callum R, Padera June O, Lamason Ashlee N, Xue Liying, Gopal Deepa M, Flynn David B, Fetterman Jessica L

Abstract excerpt

Mitochondrial DNA (mtDNA) variants cause a range of diseases from severe pediatric syndromes to aging-related conditions. The percentage of mtDNA copies carrying a pathogenic variant, variant allele frequency (VAF), must reach a threshold before a biochemical defect occurs, termed the biochemical threshold. Whether the often-cited biochemical threshold of >60% VAF is similar across mtDNA variants and cell types...

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Identifiers

PMID: 38627095
DOI: 10.1101/gr.278200.123
PMCID: PMC11067886

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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