@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:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_head { this: np:hasAssertion dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_assertion; np:hasProvenance dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_provenance; np:hasPublicationInfo dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_publicationInfo; a np:Nanopublication . dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_assertion a np:Assertion . dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_provenance a np:Provenance . dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0031485 a ncit:C7057 . dgn-gda:DGNdbb5ffe04f0a6bcddf885daf0bd4eb59 sio:SIO_000628 miriam-gene:5053, lld:C0031485; a sio:SIO_001121 . } dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_provenance { dgn-np:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_assertion dcterms:description "[To determine the molecular basis of phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) and to establish correlations between phenylalanine hydroxylase (PAH) genotypes and biochemical and clinical phenotypes in an ethnically diverse US population, PAH genotypes were determined in 35 patients with PKU or HPA and 1 carrier from the Medical Genetics Clinic of the Emory University School of Medicine.]. 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:8632937; 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:NP1349800.RAncZZdDjEMaRumEIRVJIpxL8fLwKsJUhWwlkkQ8JwmP0130_publicationInfo { this: dcterms:created "2016-05-13T12:51:58+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" . }