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Article

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

3 Oct 2019

Abstract excerpt

Importance: Next-generation sequencing can detect variants of uncertain significance (VUSs), for some of which gene therapy would not be advantageous. Therefore, the pathogenicity of compound heterozygous or homozygous variants should be confirmed before bilateral vitrectomy and administration of voretigene neparvovec-rzyl. Objective: To describe an in vitro mutagenesis assay for assessing the pathogenicity of...

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PMID: 31580392
DOI: 10.1001/jamaophthalmol.2019.3914

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