@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:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_head { this: np:hasAssertion dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion; np:hasProvenance dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_provenance; np:hasPublicationInfo dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_publicationInfo; a np:Nanopublication . dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion a np:Assertion . dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_provenance a np:Provenance . dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_publicationInfo a np:PublicationInfo . } dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0751434 a ncit:C7057 . dgn-gda:DGN92bf0c4f3afc789c63ffe18640c32a59 sio:SIO_000628 miriam-gene:5053, lld:C0751434; a sio:SIO_001121 . } dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_provenance { dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion dcterms:description "[The proximal promoter region of the human phenylalanine hydroxylase (PAH) gene was analyzed for the presence of mutations in 122 European phenylketonuria (PKU) and hyperphenylalaninemia patients having altogether 187 uncharacterized mutant PAH alleles.]. 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:8081944; 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:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_publicationInfo { this: dcterms:created "2016-05-13T12:51:50+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" . }