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Lollipop Plot of Variants in NGLY1. 56 pathogenic variants and their frequency. Pathogenic variants (orange, nonsense; red, frameshift; purple, splice; green, indel; blue, missense) indicated by circles, with pathogenic variant count (n > 1) and pathogenic variant label (n > 2). Protein domains PAW (red) and transglutaminase-like (light blue), exon-exon boundaries (dotted) lines are shown across the protein (box). Amino acid count is given at top
