@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:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_head {
this: np:hasAssertion dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion;
np:hasProvenance dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance;
np:hasPublicationInfo dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_publicationInfo;
a np:Nanopublication .
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion a np:Assertion .
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance a np:Provenance .
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion {
miriam-gene:8647 a ncit:C16612 .
lld:C0008372 a ncit:C7057 .
dgn-gda:DGNfc0a98fe04b6a5e48e87c447e9a311cc sio:SIO_000628 miriam-gene:8647, lld:C0008372;
a sio:SIO_001121 .
}
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_provenance {
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_assertion dc:description
"[Genetic examination revealed a normal familial intrahepatic cholestasis-1 gene, but a heterozygous mutation for the ABCB11, C1620A (F540L), was observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:18049162;
prov:wasDerivedFrom dgn-void:ctd_human-20130708;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
}
dgn-np:NP7260.RASdgpudpA5NyqC3ja20RuYP0Tij2AJbjZ7u4_Qe6m3fo130_publicationInfo {
this: dc:created "2014-10-02T12:32:01+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" .
}