MITOMAP References for RNA Mutation T3290C

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Index PMID Date Reference
1 19778529 2009 Zhu, H. Y., Wang, S. W., Liu, L., Chen, R., Wang, L., Gong, X. L., Zhang, M. L. (2009) Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population Clinica Chimica Acta . 410 (40545): 64-69 .
2 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 .
3 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 .
4 32167396 2020 Bulduk, B. K., Kilic, H. B., Bekircan-Kurt, C. E., Haliloglu, G., Erdem Ozdamar, S., Topaloglu, H., Kocaefe, Y. C. (2020) A novel amplification-refractory mutation system-PCR strategy to screen MT-TL1 pathogenic variants in patient repositories Genetic Testing and Molecular Biomarkers . 24 (3): 165-170 .