Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_assertion wasGeneratedBy ECO_0000218 NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_assertion wasDerivedFrom uniprot-20130724 NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_assertion SIO_000772 10466419 NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_assertion evidence source_evidence_curated NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_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." NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.