MITOMAP References for RNA Mutation A1630G

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1 19252805 2009 Horvath, R., Bender, A., Abicht, A., Holinski-Feder, E., Czermin, B., Trips, T., Schneiderat, P., Lochmuller, H., Klopstock, T. (2009) Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia Journal of Neurology . 256 (5): 810-815 .
2 29428506 2018 Ganetzky, R. D., Falk, M. J. (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease Molecular Genetics and Metabolism . 123 (3): 301-308 .
3 NA 2020 Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub ( 798264 .
4 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 .
5 21540128 2011 Glatz, C., D'Aco, K., Smith, S., Sondheimer, N. (2011) Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes Mitochondrion . 11 (4): 615-619 .