MITOMAP References for Variant C5545T at 5545

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Index PMID Date Reference
1 18337306 2008 Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., Davidson, M. M. (2008) A functionally dominant mitochondrial DNA mutation Human Molecular Genetics . 17 (12): 1814-1820 .
2 39380483 2024 Lu, J. L., Dai, Y., Ji, K., Peng, G. X., Li, H., Yan, C., Shen, B., Zhou, X. L. (2024) Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases Nucleic Acids Research . 52 (21): 13351–13367 .