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

Abstract 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 present...

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Auteurs principaux: Galya V. Klink, Hannah O’Keefe, Amrita Gogna, Georgii A. Bazykin, Joanna L. Elson
Format: article
Langue:EN
Publié: Nature Portfolio 2021
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Accès en ligne:https://doaj.org/article/157b43ef8b9b40b9af19c46b65997c28
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