MITOMAP References for Mutation T-C at 9032

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1 24986921 2014 Lopez-Gallardo, E., Emperador, S., Solano, A., Llobet, L., Martin-Navarro, A., Lopez-Perez, M. J., Briones, P., Pineda, M., Artuch, R., Barraquer, E., Jerico, I., Ruiz-Pesini, E., Montoya, J. (2014) Expanding the clinical phenotypes of MT-ATP6 mutations Human Molecular Genetics . 23 (23): 6191-6200 .
2 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
3 32931937 2020 Knight, K. M., Shelkowitz, E., Larson, A. A., Mirsky, D. M., Wang, Y., Chen, T., Wong, L. J., Friederich, M. W., Van Hove, J. L. K. (2020) The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome Mitochondrion . 55 (): 8-13 .
4 32581362 2020 Turro, E., Astle, W. J., Megy, K., Graf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J., Bennett, D. L., Calleja, P., Carss, K., Caulfield, M. J., Chinnery, P. F., Dixon, P. H., Gale, D. P., James, R., Koziell, A., Laffan, M. A., Levine, A. P., Maher, E. R., Markus, H. S., Morales, J., Morrell, N. W., Mumford, A. D., Ormondroyd, E., Rankin, S., Rendon, A., Richardson, S., Roberts, I., Roy, N. B. A., Saleem, M. A., Smith, K. G. C., Stark, H., Tan, R. Y. Y., Themistocleous, A. C., Thrasher, A. J., Watkins, H., Webster, A. R., Wilkins, M. R., Williamson, C., Whitworth, J., Humphray, S., Bentley, D. R., Nihr BioResource for the, G. P., Kingston, N., Walker, N., Bradley, J. R., Ashford, S., Penkett, C. J., Freson, K., Stirrups, K. E., Raymond, F. L., Ouwehand, W. H. (2020) Whole-genome sequencing of patients with rare diseases in a national health system Nature . 583 (7814): 96-102, supplementary data table 2. .