The functional impact of 1,570 SNP-accessible missense variants in human OTC
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Richard N. McLaughlin, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Lynne Gropman, Aimée M. Dudley
The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.
The American Journal of Human Genetics · May 1, 2023Peer-reviewedGenetics