Pathogenic missense variants in SLC2A1 (GLUT1) misroute to lysosomes in endothelial cells: insights into molecular pathology of GLUT1 deficiency
Sara Lazzari(Casa Sollievo della Sofferenza), Viviana Caputo(Sapienza University of Rome), Veronica De Paolis, Tommaso Biagini(Casa Sollievo della Sofferenza), Francesco Petrizzelli(Agostino Gemelli University Polyclinic), Francesca Matarazzo, Chiara Parisi, Tommaso Mazza(Casa Sollievo della Sofferenza), Agnese Giovannetti(Casa Sollievo della Sofferenza)
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