Article

Characterizing variants of unknown significance in rhodopsin: a functional genomics approach

2019-01-10

Abstract excerpt

Characterizing the pathogenicity of DNA sequence variants of unknown significance (VUS) is a major bottleneck in human genetics, and is increasingly important in determining which patients with inherited retinal diseases could benefit from gene therapy. A library of 210 rhodopsin ( RHO ) variants from literature and in-house genetic diagnostic testing was created to efficiently detect pathogenic RHO variants tha...

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Literature Corpus work: 0f380139-5ad0-5772-8f3f-db21bedd78cd
DOI: 10.1101/512897

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