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EC Number
Protein Variants
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1.3.99.6
L106F
naturally occurring mutation of C385T in patient RM, homozygous, patient shows giant cell hepatitis and prominent extramedullary haemopoiesis
655692
1.3.99.6
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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
1.3.99.6
P198L
naturally occurring mutation of C662T in patient MS, homozygous, patient shows giant cell hepatitis
655692
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