@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:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_head { this: np:hasAssertion dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion; np:hasProvenance dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_provenance; np:hasPublicationInfo dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_publicationInfo; a np:Nanopublication . dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion a np:Assertion . dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_provenance a np:Provenance . dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_publicationInfo a np:PublicationInfo . } dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion { miriam-gene:2643 a ncit:C16612 . lld:C0393593 a ncit:C7057 . dgn-gda:DGN46ab1b8870964b036ab7d2b220b6dc0f sio:SIO_000628 miriam-gene:2643, lld:C0393593; a sio:SIO_001122 . } dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_provenance { dgn-np:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_assertion dcterms:description "[In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after L-Dopa treatment.]. 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:19491146; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP74568.RAeQhS6qaYkmISmHmatvtLbTXU39u6zU1nMrQu3PGOHJE130_publicationInfo { this: dcterms:created "2014-10-02T12:32:36+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" . }