@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:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_head { this: np:hasAssertion dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion; np:hasProvenance dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_provenance; np:hasPublicationInfo dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_publicationInfo; a np:Nanopublication . dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion a np:Assertion . dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_provenance a np:Provenance . dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_publicationInfo a np:PublicationInfo . } dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion { miriam-gene:2566 a ncit:C16612 . lld:C0036572 a ncit:C7057 . dgn-gda:DGN314d145156d3c47dd53154d906acf85a sio:SIO_000628 miriam-gene:2566, lld:C0036572; a sio:SIO_001122 . } dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_provenance { dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion dcterms:description "[Although missense mutations in the GABA(A) receptor gamma2 subunits (GABRG2) gene have recently been detected in two families with typical absence seizures, no study has been carried out to clarify the relationship between atypical absence and GABA(A) receptors.]. 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:15955415; 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:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_publicationInfo { this: dcterms:created "2014-10-02T12:32:20+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" . }