@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:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_head { this: np:hasAssertion dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_assertion; np:hasProvenance dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_provenance; np:hasPublicationInfo dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_publicationInfo; a np:Nanopublication . dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_assertion a np:Assertion . dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_provenance a np:Provenance . dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_publicationInfo a np:PublicationInfo . } dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_assertion { miriam-gene:2643 a ncit:C16612 . lld:C0752202 a ncit:C7057 . dgn-gda:DGN01e2e7fcaf6595beabd73a2ce8f6d60c sio:SIO_000628 miriam-gene:2643, lld:C0752202; a sio:SIO_001121 . } dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_provenance { dgn-np:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_assertion dcterms:description "[It is also clear that notwithstanding the discovery of GCH1 and hTH mutations responsible for DRD, there remain many important unresolved issues regarding this disorder, including questions of female predominance, phenotypic heterogeneity, and presence of childhood-onset dystonia versus the expected parkinsonism resulting from a striatal DA deficit.]. 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:10495030; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP712885.RAjUswDVmZdUBX_S_doNRC5xr8HYV-k9CJFpz2WwQsr40130_publicationInfo { this: dcterms:created "2014-10-02T12:39:13+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }