New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.
James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, Elfride B. W. De Baere, , Chris F. Inglehearn
The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.
bioRxiv · Feb 20, 2020 · PreprintGenetics