Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_assertion wasGeneratedBy ECO_0000218 NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_assertion wasDerivedFrom uniprot-2016 NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_assertion SIO_000772 10466419 NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_assertion evidence source_evidence_curated NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.
- NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_assertion description "[alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP350.RABPWd4G9UaNbwENDAKQQQXuIKX8h9UwscycvpErvFHt0130_provenance.