MITOMAP References for Variant T4277C at 4277

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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 21945886 2012 Perli, E., Giordano, C., Tuppen, H. A., Montopoli, M., Montanari, A., Orlandi, M., Pisano, A., Catanzaro, D., Caparrotta, L., Musumeci, B., Autore, C., Morea, V., Di Micco, P., Campese, A. F., Leopizzi, M., Gallo, P., Francisci, S., Frontali, L., Taylor, R. W., d'Amati, G. (2012) Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy Human Molecular Genetics . 21 (1): 85-100 .
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 .