Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP1393537.RAQscyQHYsKSJn0gP-CA-bHmkwK1bPXBYTzXLScEl9hvE130_provenance.