Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_assertion wasGeneratedBy ECO_0000203 NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_assertion wasDerivedFrom befree-20140225 NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_assertion SIO_000772 15385440 NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_assertion evidence source_evidence_literature NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_assertion description "[l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP668148.RAubq8Pwa6ittwLqq_BumeUVQcG3p_7ilmg7lWj-LTKoA130_provenance.