MITOMAP References for Mutation T-C at 8597

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1 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
2 22348497 2012 Tsai, J. D., Liu, C. S., Tsao, T. F., Sheu, J. N. (2012) A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case Pediatrics and Neonatology . 53 (1): 60-62 .