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. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: J Inherit Metab Dis. 2020 Aug 5;43(6):1333–1348. doi: 10.1002/jimd.12290

FIGURE 1.

FIGURE 1

Lipid linked oligosaccharide pathway highlighting the role of ALG13 and a schematic showing the location of de novo variants identified in ALG13. A, Schematic showing the role of ALG13 in LLO synthesis. B, Schematic showing the four primary ALG13 transcripts with the positions of each de novo variant within the ALG13 protein. Variants identified in this study have been placed on the top portion, while previously reported variants are on the lower portion. The number of individuals identified is also listed as (n=). The solid triangles denote the catalytic triad required for the deubiquitinase domain active site D239, C242, H345