MITOMAP References for Variant T4291C at 4291

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Index PMID Date Reference
1 15498972 2004 Wilson, F. H., Hariri, A., Farhi, A., Zhao, H., Petersen, K. F., Toka, H. R., Nelson-Williams, C., Raja, K. M., Kashgarian, M., Shulman, G. I., Scheinman, S. J., Lifton, R. P. (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA Science . 306 (5699): 1190-1194 .
2 34607911 2022 Viering, D., Schlingmann, K. P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M. M. Y., van Beek, A., van Eerde, A. M., Coulibaly, J. M., Vallet, M., Decramer, S., Pelletier, S., Klaus, G., Komhoff, M., Beetz, R., Patel, C., Shenoy, M., Steenbergen, E. J., Anderson, G., Bongers, E., Bergmann, C., Panneman, D., Rodenburg, R. J., Kleta, R., Houillier, P., Konrad, M., Vargas-Poussou, R., Knoers, N., Bockenhauer, D., de Baaij, J. H. F., Genomics England Research Consortium (2022) Gitelman-like syndrome caused by pathogenic variants in mtDNA Journal of the American Society of Nephrology . 33 (2): 305-325 .