Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion> ?p ?o ?g. }
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- NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion type Assertion NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_head.
- NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion wasGeneratedBy ECO_0000203 NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_provenance.
- NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion wasDerivedFrom befree-20140225 NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_provenance.
- NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion SIO_000772 16037974 NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_provenance.
- NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion evidence source_evidence_literature NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_provenance.
- NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_assertion description "[Recently, we reported pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene as the cause of the severe phenotype of D-2-hydroxyglutaric aciduria in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP593495.RADbg49Osg1qRXQPq_HPUY62H2pMpuO9jDmmaoE0M5phc130_provenance.