The functional impact of 1,570 individual amino acid substitutions in human OTC
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley
Topics & Concepts
Missense mutationUrea cycleOrnithine transcarbamylase deficiencyContext (archaeology)Clinical significanceMedicineDiseaseOrnithine transcarbamylaseBiologyBioinformaticsPhenotypeGeneticsGeneAmino acidInternal medicineArgininePaleontologyMetabolism and Genetic DisordersAmino Acid Enzymes and MetabolismBiochemical and Molecular Research