SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis
Authors Bögershausen N, Cavdarli B, Nagai TH, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Gutiérrez-Gutiérrez Ó, Cyganek L, Saint-Dic D, Zibat A, Köhrer K, Wollenweber TE, Wieczorek D, Altmüller J, Borodina T, Kaçar D, Haliloğlu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik