Gene: ATP8

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Gene: ND3

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Gene: COX3

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Gene: ND4

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Gene: ATP6

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Gene: ND4L

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rs199476136 in ATP8;ND3;COX3;ND4;ATP6;ND4L gene and Leigh Disease PMID 23206802 2013 Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

PMID 24002810 2013 mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands.

PMID 8554662 1995 Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

PMID 22789932 2013 Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C.