@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" .
}