Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_assertion wasGeneratedBy ECO_0000203 NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_assertion wasDerivedFrom befree-20140225 NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_assertion SIO_000772 20847235 NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_assertion evidence source_evidence_literature NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_assertion description "[We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP890489.RArH9T_i_-NdGwJBy1wDurZtEC097OGfIN9tJIs41PVlg130_provenance.