Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion> ?p ?o ?g. }
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- NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion type Assertion NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_head.
- NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion description "[Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion evidence source_evidence_literature NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion SIO_000772 9554748 NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion wasDerivedFrom befree-2016 NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_assertion wasGeneratedBy ECO_0000203 NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.