MITOMAP References for Mutation G-C at 8989

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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 23266623 2013 Duno, M., Wibrand, F., Baggesen, K., Rosenberg, T., Kjaer, N., Frederiksen, A. L. (2013) A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome Gene . 515 (2): 372-375 .