Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_assertion description "[Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_assertion evidence source_evidence_curated NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_assertion SIO_000772 19068277 NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_assertion wasDerivedFrom uniprot-20150221 NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_assertion wasGeneratedBy ECO_0000218 NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3951.RA1nu4nkllnZTtwLSDkJkh99-IlYZ5rxUG7l7KfbsNrn0130_provenance.