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A schematic genetic and protein structure of GUCY2D and the location of the detected variants. The GUCY2D gene (ENST00000254854.4) contains 20 exons that encode a protein containing an extracellular domain, transmembrane domain, kinase-like domain, dimerization domain, catalytic domain, and others (Lazar et al., 2014). The 10 variants detected in this study are presented. The four novel variants are shown: p.Val56GlyfsTer262, p.Met246Ile, p.Arg761Trp, and p.Glu874Lys.
