GeneticsbioRxivPreprint
New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.
James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor…·Chris F. Inglehearn
The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.
DOI 10.1101/2020.02.20.936880