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Figure 1

ID: ZDB-IMAGE-200725-21
Publication: Toms et al., 2020 - Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
All Figures: Figures for Toms et al., 2020

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Figure 1

Position and type of USH2A variants in participating patients. Schematic diagram of the usherin protein domain architecture and USH2A exon structure. The genetic position and type of mutation of the identified USH2A variants in the patients within this study are presented as lollypops at the corresponding location in the usherin protein. Black labels correspond to nonsense mutations, white labels correspond to missense variants, diagonal lines correspond to splice site variants and grey labels correspond to insertion and deletion frameshift changes. LamGL, laminin globular-like domain; LamNT, N-terminal laminin domain; LamEGF, laminin-type epidermal growth factor-like domains; FN3, fibronectin III domains; TM, transmembrane domain; PDZ, PDZ-binding domain.

Acknowledgments

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