Literature summary for 3.10.1.1 extracted from

Gabrielli, O.; Coppa, G.V.; Bruni, S.; Villani, G.R.; Pontarelli, G.; di Natale, P.
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene (2005), Am. J. Med. Genet. A, 133, 85-89.

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Protein Variants

Protein Variants	Comment	Organism
R206P	an adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene shows a mild clinical phenotype characterized essentially by a moderate nonevolving metal retardation, polymorphism R456H is also found	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	an adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene shows a mild clinical phenotype characterized essentially by a moderate nonevolving metal retardation, polymorphism R456H is also found	-

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Release 2023.1 (January 2023)