Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
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DOI: 10.1002/humu.23762
Abstract: 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.… read more here.
Keywords: unknown significance; variants unknown; characterizing variants; rhodopsin ... See more keywords