MITOMAP References for RNA Mutation C12264T

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Index PMID Date Reference
1 22369973 2012 Schrier, S. A., Wong, L. J., Place, E., Ji, J. Q., Pierce, E. A., Golden, J., Santi, M., Anninger, W., Falk, M. J. (2012) Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts Discovery Medicine . 13 (69): 143-150 .
2 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 .
3 22378285 2012 Tuppen, H. A., Naess, K., Kennaway, N. G., Al-Dosary, M., Lesko, N., Yarham, J. W., Bruhn, H., Wibom, R., Nennesmo, I., Weleber, R. G., Blakely, E. L., Taylor, R. W., McFarland, R. (2012) Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy European Journal of Human Genetics . 20 (8): 897-904 .