MITOMAP References for Variant T-C at 8418

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Index PMID Date Reference
1 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 .
2 37340059 2023 Panja, C., Niedzwiecka, K., Baranowska, E., Poznanski, J., Kucharczyk, R. (2023) Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism Scientific Reports . 13 (1): 9972 .