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Article

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Human mutation - 1 Aug 2019

Wan Aliete, Place Emily, Pierce Eric A, Comander Jason

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 were created to efficiently detect pathogenic RHO variants that...

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Identifiers

PMID: 30977563
DOI: 10.1002/humu.23762
PMCID: PMC7027811

Genes

RHO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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