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- source_evidence_literature type ECO_0000212 NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_assertion wasGeneratedBy ECO_0000203 NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_assertion wasDerivedFrom befree-20150227 NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_assertion SIO_000772 20847235 NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_assertion evidence source_evidence_literature NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.
- NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_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." NP475495.RAFHR7EvelOLE-QjrILjz0IBVRaTrORHwstvy7kW4AYPk130_provenance.