SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis - Bögershausen, Nina; Cavdarli, Büsranur; Nagai, Taylor H.; Milev, Miroslav P.; Wolff, Alexander; Mehranfar, Mahsa; Schmidt, Julia; Choudhary, Dharmendra; Gutiérrez-Gutiérrez, Óscar; Cyganek, Lukas; Saint-Dic, Djenann; Zibat, Arne; et al. (The journal of clinical investigation, 2025)
Veröffentlicht: 25. März 2025