Fig. 1

Schematic representation of the variant type and exon–intron distribution of the variants in CLN6. Each symbol represents the corresponding variant type (see legend). Novel variants identified in this study are shown above the grey boxes (a) and previously reported variants from this study are presented below the grey boxes (b). The majority of variants are missense variants. Most of the novel reported variants are located in exons 3, 4, and 7