@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:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_head { this: np:hasAssertion dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_assertion; np:hasProvenance dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_provenance; np:hasPublicationInfo dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_publicationInfo; a np:Nanopublication . dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_assertion a np:Assertion . dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_provenance a np:Provenance . dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_publicationInfo a np:PublicationInfo . } dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_assertion { miriam-gene:2566 a ncit:C16612 . lld:C0393593 a ncit:C7057 . dgn-gda:DGNf426f0df578a6a67f00f32b4cad353d0 sio:SIO_000628 miriam-gene:2566, lld:C0393593; a sio:SIO_001122 . } dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_provenance { dgn-np:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_assertion dcterms:description "[In this study, we tested the hypothesis that mutations in the GABRA1, GABRB3, and GABRG2 genes encoding the alpha1, beta3, and gamma subunits of the GABA(A) receptor are involved in familial primary dystonia.]. 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:17880575; 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:NP87583.RAoE6MxGQR4WMpVTNTXwGOU7Bu2rIZ5ETHoms-lf-HgH4130_publicationInfo { this: dcterms:created "2014-10-02T12:32:43+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" . }