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Disease-associated CNVs spanning TBK1 gene. (a) GLC1P locus includes TBK1 with flanking XPOT and RASSF3 genes. (b) CNVs duplicating or triplicating TBK1 in NTG patients (indicated by arrows). (c) TBK1 gene encodes a 729-amino acid protein with kinase, ubiquitin-like (ULD), coiled-coil (CC), leucine zipper (LZ), and helix–loop–helix (HLH) domains. CNV = copy number variation, NTG = normal tension glaucoma
