| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 20142618 | 2010 | Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene Neurology . 74 (6): 507-512 . |
| 2 | 28267784 | 2017 | Connor, T. M., Hoer, S., Mallett, A., Gale, D. P., Gomez-Duran, A., Posse, V., Antrobus, R., Moreno, P., Sciacovelli, M., Frezza, C., Duff, J., Sheerin, N. S., Sayer, J. A., Ashcroft, M., Wiesener, M. S., Hudson, G., Gustafsson, C. M., Chinnery, P. F., Maxwell, P. H. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease PLoS Genetics . 13 (3): e1006620 . |
| 3 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
| 4 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |