Characterizing variants of unknown significance inrhodopsin: a functional genomics approach
Aliete Wan, Emily Place, Eric A. Pierce, Jason Comander
This study develops a high-throughput cell-based assay to functionally characterize pathogenic variants of unknown significance in rhodopsin, recategorizing 37 variants and validating results across assays.
Human Mutation · Apr 12, 2019Peer-reviewedGenetics