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EC Number Protein Variants Commentary Reference
Show all pathways known for 2.4.1.258Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.258G118D missense mutation in patients with type IV of the carbohydrate deficient glycoprotein syndromes, characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins 708327
Show all pathways known for 2.4.1.258Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.258more alg3 mutant -, 636767
Show all pathways known for 2.4.1.258Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.258more gene is able to complement the Saccharomyces cerevisiae DELTAalg3 mutant 722368
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