Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion description "[Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the hyperinsulinism/hyperammonemia syndrome, which is often associated with epileptic seizures, mental retardation, and generalized dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion evidence source_evidence_literature NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion SIO_000772 23463419 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion wasDerivedFrom befree-20150227 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion wasGeneratedBy ECO_0000203 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.