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Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

Inter-individual variation in the number of copies of the mitochondrial genome, called mitochondrial DNA copy number (mtDNA-CN), reflects mitochondrial function and has been associated with various aging-related diseases. We examined 415,422 exomes of self-reported White ancestry individuals from th...

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Detalles Bibliográficos
Autores principales: Pillalamarri, Vamsee, Shi, Wen, Say, Conrad, Yang, Stephanie, Lane, John, Guallar, Eliseo, Pankratz, Nathan, Arking, Dan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615038/
https://www.ncbi.nlm.nih.gov/pubmed/36311265
http://dx.doi.org/10.1016/j.xhgg.2022.100147