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Are some mutations more equal than others?
Cote-L'Heureux A, Maithania YNK, Franco M, Khrapko K. Cote-L'Heureux A, et al. Elife. 2023 Apr 19;12:e87194. doi: 10.7554/eLife.87194. Elife. 2023. PMID: 37074148 Free PMC article.
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
Franco M, Pickett SJ, Fleischmann Z, Khrapko M, Cote-L'Heureux A, Aidlen D, Stein D, Markuzon N, Popadin K, Braverman M, Woods DC, Tilly JL, Turnbull DM, Khrapko K. Franco M, et al. Among authors: cote l heureux a. Hum Mol Genet. 2022 Nov 28;31(23):4075-4086. doi: 10.1093/hmg/ddac149. Hum Mol Genet. 2022. PMID: 35849052 Free PMC article.