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    Steel, D., Zech, M., Zhao, C., Barwick, K. E. S., Burke, D., Demailly, D., Kumar, K. R., Zorzi, G., Nardocci, N., Kaiyrzhanov, R., Wagner, M., Iuso, A., Berutti, R., Škorvánek, M., Necpál, J., Davis, R., Wiethoff, S., Mankad, K., Sudhakar, S., Ferrini, A., Sharma, S., Kamsteeg, E., Tijssen, M. A., Verschuuren, C., van Egmond, M. E., Flowers, J. M., McEntagart, M., Tucci, A., Coubes, P., Bustos, B. I., Gonzalez‐Latapi, P., Tisch, S., Darveniza, P., Gorman, K. M., Peall, K. J., Bötzel, K., Koch, J. C., Kmieć, T., Plecko, B., Boesch, S., Haslinger, B., Jech, R., Garavaglia, B., Wood, N., Houlden, H., Gissen, P., Lubbe, S. J., Sue, C. M., Cif, L., Mencacci, N. E., Anderson, G., Kurian, M. A., Winkelmann, J., & ,  (2020). loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Annals of neurology, 88(5), 867–877. http://access.bl.uk/ark:/81055/vdc_100113078219.0x000057
  
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