@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:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_head { this: np:hasAssertion dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion; np:hasProvenance dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_provenance; np:hasPublicationInfo dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_publicationInfo; a np:Nanopublication . dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion a np:Assertion . dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_provenance a np:Provenance . dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_publicationInfo a np:PublicationInfo . } dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0751435 a ncit:C7057 . dgn-gda:DGNcf53eb1a94e13a97e2cf1d9e9d10e2a0 sio:SIO_000628 miriam-gene:5053, lld:C0751435; a sio:SIO_001121 . } dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_provenance { dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion dcterms:description "[Its deficiency is characterized by hyperphenylalaninemia due to the secondary defect of phenylalanine hydroxylase and depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases.]. 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:9744478; 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:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_publicationInfo { this: dcterms:created "2016-05-13T12:52:23+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" . }