@prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_head { this: np:hasAssertion dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_assertion; np:hasProvenance dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_provenance; np:hasPublicationInfo dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_publicationInfo; a np:Nanopublication . dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_assertion a np:Assertion . dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_provenance a np:Provenance . dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_publicationInfo a np:PublicationInfo . } dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_assertion { miriam-gene:2184 a ncit:C16612 . lld:C0268483 a ncit:C7057 . dgn-gda:DGN2ebffe97718850cdcca992ba39a724da sio:SIO_000628 miriam-gene:2184, lld:C0268483; a sio:SIO_001121 . } dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_provenance { dgn-np:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_assertion dc:description "[Two healthy adults with low fumarylacetoacetase activity in fibroblasts and lymphocytes, one a compound heterozygote for the tyrosinaemia and the pseudodeficiency genes and the other a homozygote for the pseudodeficiency gene, produced substantial amounts of succinylacetone when given an intravenous homogentisate load.]. 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:4064334; 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:NP366612.RADOSHToJ9afXYayLZW_sMGxHi2p2oyGxIPmr34FN6a10130_publicationInfo { this: dc:created "2014-10-02T12:35:34+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc: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" . }