@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:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_head { this: np:hasAssertion dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_assertion; np:hasProvenance dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_provenance; np:hasPublicationInfo dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_publicationInfo; a np:Nanopublication . dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_assertion a np:Assertion . dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_provenance a np:Provenance . dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_publicationInfo a np:PublicationInfo . } dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_assertion { miriam-gene:200959 a ncit:C16612 . lld:C0270736 a ncit:C7057 . dgn-gda:DGN71c13d26aabe8fa52a0dd92e6479ba62 sio:SIO_000628 miriam-gene:200959, lld:C0270736; a sio:SIO_001122 . } dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_provenance { dgn-np:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_assertion dcterms:description "[To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.]. 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:20820800; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP979379.RAMRcxpCjBjd3MzD_5pMezCMsi3iNH1SS5TwTou7zEyAA130_publicationInfo { this: dcterms:created "2015-08-25T14:47:38+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }