MITOMAP References for RNA Mutation C8305T

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Index PMID Date Reference
1 29174468 2018 Scarpelli, M., Carreno-Gago, L., Russignan, A., de Luna, N., Carnicer-Caceres, C., Ariatti, A., Verriello, L., Devigili, G., Tonin, P., Garcia-Arumi, E., Pinos, T. (2018) Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies Neuromuscular Disorders . 28 (2): 137-143 .
2 29472063 2018 Finsterer, J., Zarrouk-Mahjoub, S. (2018) Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants Neuromuscular Disorders . 28 (4): 373-374 .
3 29482911 2018 Scarpelli, M., Carreno-Gago, L., Russignan, A., de Luna, N., Carnicer-Caceres, C., Ariatti, L. A., Verriello, G. D., Tonin, P., Garcia-Arumi, E., Pinos, T. (2018) Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response Neuromuscular Disorders . 28 (4): 374-375 .
4 29467576 2018 Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245