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Literature summary extracted from

  • Tomatsu, S.; Fukuda, S.; Cooper, A.; Wraith, J.E.; Yamagishi, A.; Kato, Z.; Yamada, N.; Isogai, K.; Sukegawa, K.; Suzuki, Y.; Shimozawa, N.; Kondo, N.; Orii, T.
    Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease (1998), Hum. Mutat., Suppl. 1, S42-S46.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
3.1.6.4 additional information polymorphism within the GALNS gene, I113F is a missense mutation Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.1.6.4 Homo sapiens
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