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    • Biallelic PI4KA variants cause neurological, intestinal and immunological disease 

      Salter, C. G.; Cai, Y.; Lo, B.; Helman, G.; Taylor, H.; McCartney, A.; Leslie, J. S.; Accogoli, A.; Zara, F.; Traverso, M.; Fasham, J.; Lees, J. A.; Ferla, M.; Chioza, B. A.; Wenger, O.; Scott, E.; Cross, H. E.; Crawford, J.; Warshawsky, I.; Keisling, M.; Agamanolis, D.; Melver, C. W.; Cox, H.; Elawad, M.; Marton, T.; Wakeling, M.; Holzinger, D.; Tippelt, S.; Munteanu, M.; Valcheva, D.; Deal, C.; Van Meerbeke, S.; Vockley, C. W.; 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. (Oxford University Press, 2021-08-20)
      Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. ...