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Article

MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.

Scientific reports - 23 Feb 2017

Marom Shani, Friger Michael, Mishmar Dan

Abstract excerpt

Human mtDNA genetic variants have traditionally been considered markers for ancient population migrations. However, during the past three decades, these variants have been associated with altered susceptibility to various phenotypes, thus supporting their importance for human health. Nevertheless, mtDNA disease association has frequently been supported only in certain populations, due either to population...

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PMID: 28230165
DOI: 10.1038/srep43449
PMCID: PMC5322532

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