Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I. - Lo, Russell S.; Cromie, Gareth A.; Tang, Michelle; Sirr, Amy; Caldovic, Ljubica; Morizono, Hiroki; Ah Mew, Nicholas; Gropman, Andrea; Dudley, Aimée M. (PLoS Genetics, 2026)