Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- befree-2016 importedOn "2016-02-19" NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_assertion wasGeneratedBy ECO_0000203 NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_assertion wasDerivedFrom befree-2016 NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_assertion SIO_000772 10466419 NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_assertion evidence source_evidence_literature NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.
- NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_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." NP261533.RA1i7R2y-_wLe8FpSkag6f5uxa-pUAqVxzw0QrDF14_j0130_provenance.