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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 1.3.99.6L106F naturally occurring mutation of C385T in patient RM, homozygous, patient shows giant cell hepatitis and prominent extramedullary haemopoiesis 655692
Display the word mapDisplay the reaction diagram Show all sequences 1.3.99.6more in patient BH naturally occurs a frame shift due to a base deletion, 511delT, resulting in a premature stop codon in exon 5, patient shows giant cell hepatitis and prominent extramedullary haemopoiesis 655692
Display the word mapDisplay the reaction diagram Show all sequences 1.3.99.6P198L naturally occurring mutation of C662T in patient MS, homozygous, patient shows giant cell hepatitis 655692
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