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 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 .