Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_assertion type Assertion NP839728.RAb0iTYmRdmK6AXYSKRg5ZTPKLXYsYX2Jq9JXp51jz8PI130_head.
- 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.