Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- befree-2016 importedOn "2016-02-19" NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_assertion wasGeneratedBy ECO_0000203 NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_assertion wasDerivedFrom befree-2016 NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_assertion SIO_000772 10466419 NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_assertion evidence source_evidence_literature NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.
- NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_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." NP261527.RA-9y5YRRdEHnOMwse4nrb2QqPDq2FrpzA-UWtA106VRs130_provenance.