@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:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_head { this: np:hasAssertion dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_assertion; np:hasProvenance dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_provenance; np:hasPublicationInfo dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_publicationInfo; a np:Nanopublication . dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_assertion a np:Assertion . dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_provenance a np:Provenance . dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_publicationInfo a np:PublicationInfo . } dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_assertion { miriam-gene:9569 a ncit:C16612 . lld:C0175702 a ncit:C7057 . dgn-gda:DGN5339e930ce676366b0cc1bdfd9f3f854 sio:SIO_000628 miriam-gene:9569, lld:C0175702; a sio:SIO_001121 . } dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_provenance { dgn-np:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_assertion dcterms:description "[Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome.]. 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:22608712; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP983483.RAF5tz1OqaKT5xeTmAKTlu_UohO-agSb5dm5w-yfp2BmU130_publicationInfo { this: dcterms:created "2016-05-13T12:49:10+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }