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Results 1 - 6 of 6
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EC Number Protein Variants Commentary Reference
Display the reaction diagram Show all sequences 1.1.5.13DELTA-exon9 the mutation is associated with L-2-hydroxyglutaric aciduria 755232
Display the reaction diagram Show all sequences 1.1.5.13DELTA-exon9 the mutation leads to severely reduced enzyme activity and is associated with L-2-hydroxyglutaric aciduria 752866
Display the reaction diagram Show all sequences 1.1.5.13E176D the mutation is associated with L-2-hydroxyglutaric aciduria 755232
Display the reaction diagram Show all sequences 1.1.5.13E176D the mutation leads to severely reduced enzyme activity and is associated with L-2-hydroxyglutaric aciduria 752866
Display the reaction diagram Show all sequences 1.1.5.13K71E the mutation is associated with L-2-hydroxyglutaric aciduria 755232
Display the reaction diagram Show all sequences 1.1.5.13K81E the mutation leads to severely reduced enzyme activity and is associated with L-2-hydroxyglutaric aciduria 752866
Results 1 - 6 of 6
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