MITOMAP References for RNA Mutation T616C

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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 .