Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_assertion description "[Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_assertion evidence source_evidence_curated NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_assertion SIO_000772 15772097 NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_assertion wasDerivedFrom uniprot-20130724 NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_assertion wasGeneratedBy ECO_0000218 NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5083.RAjDT21vl0L4UH0IDODKy0qbU2ua4jrIU9Z85LOe-7h1g130_provenance.