MITOMAP References for Variant G3249A at 3249

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Index PMID Date Reference
1 11448301 2001 Seneca, S., Verhelst, H., De Meirleir, L., Meire, F., Ceuterick-De Groote, C., Lissens, W., Van Coster, R. (2001) A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome Archives of Neurology . 58 (7): 1113-1118 .
2 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
3 20550934 2010 Yakubovskaya, E., Mejia, E., Byrnes, J., Hambardjieva, E., Garcia-Diaz, M. (2010) Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription Cell . 141 (6): 982-993 .
4 29161289 2017 Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 .
5 33380464 2021 Karasik, A., Wilhelm, C. A., Fierke, C. A., Koutmos, M. (2021) Disease-associated mutations in mitochondrial precursor tRNAs affect binding, m1R9 methylation, and tRNA processing by mtRNase P RNA . 27 (4): 420-432 .