WUH-LIANG HWUHuang Y.-T.YIN-HSIU CHIENYeh H.-Y.Lul F.Chou S.-P.Lin J.-M.Chiang S.-C.2020-12-162020-12-1620030340-6717https://www.scopus.com/inward/record.uri?eid=2-s2.0-0141765867&doi=10.1007%2fs00439-003-0994-5&partnerID=40&md5=4b65c45d63bd8dc764c43efca076fb94https://scholars.lib.ntu.edu.tw/handle/123456789/526047[SDGs]SDG3ornithine carbamoyltransferase; asparagine; ornithine decarboxylase; threonine; ornithine carbamoyltransferase; codon; disorders of amino acid and protein metabolism; gene deletion; gene sequence; human; note; priority journal; amino acid substitution; base pairing; missense mutation; nonsense mutation; nucleic acid base substitution; article; genetics; missense mutation; nomenclature; Amino Acid Substitution; Humans; Mutation, Missense; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; TerminologyGene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiencynote10.1007/s00439-003-0994-5129742712-s2.0-0141765867