@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:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_head { this: np:hasAssertion dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_assertion; np:hasProvenance dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_provenance; np:hasPublicationInfo dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_publicationInfo; a np:Nanopublication . dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_assertion a np:Assertion . dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_provenance a np:Provenance . dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_publicationInfo a np:PublicationInfo . } dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_assertion { miriam-gene:3269 a ncit:C16612 . lld:C0036341 a ncit:C7057 . dgn-gda:DGN74eeed8bcabe7e9f1bc55b1e23fae990 sio:SIO_000628 miriam-gene:3269, lld:C0036341; a sio:SIO_001122 . } dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_provenance { dgn-np:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_assertion dcterms:description "[We have concluded that the participation of these variants in the disorder is unlikely, particularly in view of their apparent lack of function and unlikely influence on receptor expression. However their nature alludes to the potential presence of other more important alterations further along these regions, where sequences encoding alternate promoters have recently been identified for each receptor that may yet be found to harbour such polymorphisms.]. 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:12429384; 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:NP57546.RAeZR9Rr2JSjbmsgpkZZPDwgZBMSa7NvQ-7et5y4Lcuqc130_publicationInfo { this: dcterms:created "2014-10-02T12:32:27+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" . }