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Schematic representation of the SLC35A2 variants present in our 30 individuals. (A) Schematic representation showing exon location of all 30 SLC35A2 variants identified in this study. (B) Schematic representation showing protein localization of all 30 SLC35A2 variants identified in this study. SLC35A2 topology was determined using 3D model generated with PHYRE2 server (Kelley, Mezulis, Yates, Wass & Sternberg, 2015).
