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Schematic distribution shows the five novel mutations identified in the current study along the USH2A isoform b protein domains. Abbreviation: EGF-like domain (EGF Lam); Transmembrane region (TM); Laminin G-like domain (Lam GL); Fibronectin type III (FN3); PDZ-binding motif (PBM); Laminin N-terminal (Lam NT); Laminin G domains (Lam G).
