Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_assertion description "[Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_assertion evidence source_evidence_curated NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_assertion SIO_000772 9700195 NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_assertion wasDerivedFrom uniprot-20130724 NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_assertion wasGeneratedBy ECO_0000218 NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP311.RAoocKR1wMOrpNRKDVXO2iTAMtoun1ET6XVFRiznXlUuU130_provenance.