MITOMAP References for RNA Mutation G4308A

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Index PMID Date Reference
1 20884012 2011 Souilem, S., Chebel, S., Mancuso, M., Petrozzi, L., Siciliano, G., FrihAyed, M., Hentati, F., Amouri, R. (2011) A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia Journal of the Neurological Sciences . 300 (40545): 187-190 .
2 21292040 2011 Schaller, A., Desetty, R., Hahn, D., Jackson, C. B., Nuoffer, J. M., Gallati, S., Levinger, L. (2011) Impairment of mitochondrial tRNA(Ile) processing by a novel mutation associated with chronic progressive external ophthalmoplegia Mitochondrion . 11 (3): 488-496 .
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 .