Figure 2. Location of identified variants in the AGRN, SLC39A5, SCO2, ZNF644, BSG, P4HA2, and CPSF1 genes. Exons of human AGRN, SLC39A5, SCO2, ZNF644, BSG, P4HA2, and CPSF1 (upper), and locations of mutated residues with respect to the topological model of the polypeptides (under) are shown. A total of 11 heterozygous variants in red were identified in this study (A–G).