@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:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_head { this: np:hasAssertion dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion; np:hasProvenance dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_provenance; np:hasPublicationInfo dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_publicationInfo; a np:Nanopublication . dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion a np:Assertion . dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_provenance a np:Provenance . dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_publicationInfo a np:PublicationInfo . } dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion { miriam-gene:3155 a ncit:C16612 . lld:C0020615 a ncit:C7057 . dgn-gda:DGNd4c437f3908a304c051bd008b24c17fe sio:SIO_000628 miriam-gene:3155, lld:C0020615; a sio:SIO_001121 . } dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_provenance { dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion dcterms:description "[Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is an autosomal recessive disorder affecting the leucine catabolic pathway and ketone body synthesis, and is clinically characterized by metabolic crises with hypoketotic hypoglycemia, metabolic acidosis and hyperammonemia.]. 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:25872961; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_publicationInfo { this: dcterms:created "2016-05-13T12:51:25+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }