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Results 41 - 45 of 45

EC Number	Protein Variants	Commentary	Reference
1.1.99.2	V296E	the mutation is associated with L-2-hydroxyglutaric aciduria	712128
1.1.99.2	Y153X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128
1.1.99.2	Y195C	the mutation is associated with L-2-hydroxyglutaric aciduria	712128
1.1.99.2	Y301X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128
1.1.99.2	Y367C	the mutation is associated with L-2-hydroxyglutaric aciduria	712128

Results 41 - 45 of 45

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Release 2023.1 (January 2023)