MITOMAP References for Mutation A-G at 9029

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1 23463613 2013 Tang, S., Wang, J., Zhang, W., Li, F., Landsverk, M., Cui, H., Truong, C., Wang, G., Li, C., Graham, B., Scaglia, F., Schmitt, E. S., Craigen, W. J., Wong, L. C. (2013) Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects Human Mutation . 34 (6): 882-893 Most reported SNVs are not found in the body of the paper itself but are listed in the supplemental information as Unclassified Variants.
2 24986921 2014 Lopez-Gallardo, E., Emperador, S., Solano, A., Llobet, L., Martin-Navarro, A., Lopez-Perez, M. J., Briones, P., Pineda, M., Artuch, R., Barraquer, E., Jerico, I., Ruiz-Pesini, E., Montoya, J. (2014) Expanding the clinical phenotypes of MT-ATP6 mutations Human Molecular Genetics . 23 (23): 6191-6200 .
3 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 .
4 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): .