MITOMAP References for Mutation G-C at 8839

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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 24118886 2013 Blanco-Grau, A., Bonaventura-Ibars, I., Coll-Canti, J., Melia, M. J., Martinez, R., Martinez-Gallo, M., Andreu, A. L., Pinos, T., Garcia-Arumi, E. (2013) Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome Genes, Brain, and Behavior . 12 (8): 812-820 .
3 29467576 2018 Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245