Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- befree-2016 importedOn "2016-02-19" NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_assertion wasGeneratedBy ECO_0000203 NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_assertion wasDerivedFrom befree-2016 NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_assertion SIO_000772 20847235 NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_assertion evidence source_evidence_literature NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.
- NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_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." NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_provenance.