Author Reply to Peer Reviews of Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

Russell S. Lo; Gareth A. Cromie; Michelle Tang; Amy Sirr; Ljubica Caldovic; Hiroki Morizono; Nicholas Ah Mew; Andrea Gropman; Aimée M. Dudley

doi:10.15252/rc.2026319613

Author Reply to Peer Reviews of Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

2026

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Authors: Russell S. Lo, Gareth A. Cromie, Michelle Tang, Amy Sirr, Ljubica Caldovic, Hiroki Morizono, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley

DOI: 10.15252/rc.2026319613

Cited by: 0

Fields of Study & Subjects

Metabolism and Genetic Disorders Amino Acid Enzymes and Metabolism Genomics and Rare Diseases

Publication details

Publication date: 29 January 2026