@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_head { this: np:hasAssertion dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_assertion; np:hasProvenance dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_provenance; np:hasPublicationInfo dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_publicationInfo; a np:Nanopublication . dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_assertion a np:Assertion . dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_provenance a np:Provenance . dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_publicationInfo a np:PublicationInfo . } dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_assertion { miriam-gene:3155 a ncit:C16612 . lld:C0268601 a ncit:C7057 . dgn-gda:DGN4eff47e0abb5a8b1581173bfdab1e721 sio:SIO_000628 miriam-gene:3155, lld:C0268601; a sio:SIO_001121 . } dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_provenance { dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_assertion dcterms:description "[3-Hydroxy-3-methylglutaric aciduria (OMIM 246450) is an autosomal recessive inborn error of the final step of leucine catabolic and ketogenic pathways, caused by deficiency of the enzyme 3-hydroxy-3-methylglutaryl CoA lyase (HL, HMGCL, EC 4.1.3.4).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:15308132; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP414332.RAgTj6yT8Jw4zJG74Snr9habGgDT601l4eVhhnXnRkF8s130_publicationInfo { this: dcterms:created "2014-10-02T12:36:06+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }