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Salter CG, Cai Y, Lo B, et al. Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain. 2021;144(12):3597-3610doi: 10.1093/brain/awab313.
Salter, C. G., Cai, Y., Lo, B., Helman, G., Taylor, H., McCartney, A., Leslie, J. S., Accogli, A., Zara, F., Traverso, M., Fasham, J., Lees, J. A., Ferla, M. P., Chioza, B. A., Wenger, O., Scott, E., Cross, H. E., Crawford, J., Warshawsky, I., Keisling, M., Agamanolis, D., Ward Melver, C., Cox, H., Elawad, M., Marton, T., Wakeling, M. N., Holzinger, D., Tippelt, S., Munteanu, M., Valcheva, D., Deal, C., Van Meerbeke, S., Walsh Vockley, C., Butte, M. J., Acar, U., van der Knaap, M. S., Korenke, G. C., Kotzaeridou, U., Balla, T., Simons, C., Uhlig, H. H., Crosby, A. H., De Camilli, P., Wolf, N. I., & Baple, E. L. (2021). Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain : a journal of neurology, 144(12), 3597-3610. https://doi.org/10.1093/brain/awab313
Salter, Claire G, et al. "Biallelic PI4KA variants cause neurological, intestinal and immunological disease." Brain : a journal of neurology vol. 144,12 (2021): 3597-3610. doi: https://doi.org/10.1093/brain/awab313
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. PMID: 34415310.
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