@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:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_head { this: np:hasAssertion dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_assertion; np:hasProvenance dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_provenance; np:hasPublicationInfo dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_publicationInfo; a np:Nanopublication . dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_assertion a np:Assertion . dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_provenance a np:Provenance . dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_publicationInfo a np:PublicationInfo . } dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0031485 a ncit:C7057 . dgn-gda:DGNfa2fb6018a0fa03d59b85fa273d58969 sio:SIO_000628 miriam-gene:5053, lld:C0031485; a sio:SIO_001121 . } dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_provenance { dgn-np:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_assertion dcterms:description "[Our results are consistent with the view that allelic heterogeneity at the PAH locus dominates the biochemical phenotype in PKU and that genotype information is able to predict the metabolic phenotype in PKU patients.]. 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:8831077; 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:NP1358584.RAF6Y2Zdv-cUnDUtOPjC_AvL1jxf7BQGXrpssZoTnDkmw130_publicationInfo { this: dcterms:created "2016-05-13T12:52:02+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" . }