@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:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_head { this: np:hasAssertion dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion; np:hasProvenance dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_provenance; np:hasPublicationInfo dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_publicationInfo; a np:Nanopublication . dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion a np:Assertion . dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_provenance a np:Provenance . dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_publicationInfo a np:PublicationInfo . } dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0751435 a ncit:C7057 . dgn-gda:DGNa7a7111c18054d59b49e264c35639033 sio:SIO_000628 miriam-gene:5053, lld:C0751435; a sio:SIO_001121 . } dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_provenance { dgn-np:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion dcterms:description "[The genetic heterogeneity at the phenylalanine hydroxylase (PAH) locus was studied in 88 families including 93 of the 105 children with phenylketonuria (PKU) or hyperphenylalaninemia (HPA) detected through the Swedish neonatal screening program from 1966 to the end of 1986.]. 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:1674714; 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:NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_publicationInfo { this: dcterms:created "2016-05-13T12:45:55+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" . }