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Location and conservation of the p.Asn546del variant. (A) Pathogenic and likely pathogenic variants reported in the ClinVar database as of July 3, 2018. Blue dots represent missense variants. The p.Asn542del variant is shown in red. BICD2 protein structure, coiled-coil domains (gold), and KIF5 interaction region (red bar) were taken from UniProtKB entry Q8TD16. (B) UCSC Genome Browser screenshot for the region harboring the p.Asn542del variant.
