Literature summary for 3.1.6.4 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.

Protein Variants

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

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)