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(a) MYO7A gene model. The location of the affected 6th exon is indicated in red, the UTRs are indicated in dark green. (b) Illustration of the stop‐gained variant. Figure shows wildtype and mutant exon (c) Alignment of the mutant (Mt) and wildtype (Wt) MYO7A protein sequence. The variant induces a premature stop codon leading to a truncated MYO7A protein.
