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Article

A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.

Scientific reports - 1 Oct 2021

Klink Galya V, O'Keefe Hannah, Gogna Amrita, Bazykin Georgii A, Elson Joanna L

Abstract excerpt

Disease caused by mutations of mitochondrial DNA (mtDNA) are highly variable in both presentation and penetrance. Over the last 30 years, clinical recognition of this group of diseases has increased. It has been suggested that haplogroup background could influence the penetrance and presentation of disease-causing mutations; however, to date there is only one well-established example of such an effect: the...

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Identifiers

PMID: 34599203
DOI: 10.1038/s41598-021-98360-7
PMCID: PMC8486755

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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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