MITOMAP References for RNA Mutation T4290C

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Index PMID Date Reference
1 21533077 2011 Moreno-Loshuertos, R., Ferrin, G., Acin-Perez, R., Gallardo, M. E., Viscomi, C., Perez-Martos, A., Zeviani, M., Fernandez-Silva, P., Enriquez, J. A. (2011) Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations PLoS Genetics . 7 (4): e1001379 .
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 15121771 2004 Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Suzuki, T., Reichmann, H., Zeviani, M. (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome Journal of Medical Genetics . 41 (5): 342-349 .
4 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
5 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .