MITOMAP References for RNA Mutation G4296A

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Index PMID Date Reference
1 21982779 2012 Cox, R., Platt, J., Chen, L. C., Tang, S., Wong, L. J., Enns, G. M. (2012) Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine Mitochondrion . 12 (2): 258-261 SNVs are in the supplemental information
2 23288206 2013 Cui, H., Li, F., Chen, D., Wang, G., Truong, C. K., Enns, G. M., Graham, B., Milone, M., Landsverk, M. L., Wang, J., Zhang, W., Wong, L. J. (2013) Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders Genetics in Medicine . 15 (5): 388-394 .
3 23395828 2013 Martikainen, M. H., Kytovuori, L., Majamaa, K. (2013) Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA Mitochondrion . 13 (2): 83-86 .
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 .