| Index | PMID | Date | Reference |
|---|---|---|---|
| 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 Mutation . 41 (10): . |