MITOMAP References for RNA Mutation C3275T

Download PMID list

Index PMID Date Reference
1 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 .
2 29155328 2018 Ding, Y., Xia, B. H., Zhang, C. J., Zhuo, G. C. (2018) Mitochondrial tRNA(Leu(UUR)) C3275T, tRNA(Gln) T4363C and tRNA(Lys) A8343G mutations may be associated with PCOS and metabolic syndrome Gene . 642 (): 299-306 .
3 30194987 2019 Zhu, Y., You, J., Xu, C., Gu, X. (2019) Pathogenicity of the homoplasmic C3275T, T4363C and A8343G variant requires confirmation Gene . 680 (): 97-98 .
4 28027978 2017 Bacalhau, M., Pratas, J., Simoes, M., Mendes, C., Ribeiro, C., Santos, M. J., Diogo, L., Macario, M. C., Grazina, M. (2017) In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes European Journal of Medical Genetics . 60 (3): 172-177, additional variants in supplement .
5 33552719 2021 Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 .
6 34053002 2021 Shuai, J., Shi, J., Liang, Y., Ji, F., Gu, L., Yuan, Z. (2021) Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy Irish Journal of Medical Science ePub ahead of print, http://doi.org/10.1007/s11845-021-02656-6 (): .