MITOMAP References for RNA Mutation T618C

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Index PMID Date Reference
1 9636664 1998 Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krahenbuhl, S., Liechti-Gallati, S. (1998) A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease Biochemical and Biophysical Research Communications . 247 (1): 112-115 .
2 17878308 2007 Ling, J., Roy, H., Qin, D., Rubio, M. A., Alfonzo, J. D., Fredrick, K., Ibba, M. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome Proceedings of the National Academy of Sciences . 104 (39): 15299-15304 .
3 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 .