@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:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_head { this: np:hasAssertion dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion; np:hasProvenance dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_provenance; np:hasPublicationInfo dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_publicationInfo; a np:Nanopublication . dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion a np:Assertion . dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_provenance a np:Provenance . dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion { miriam-gene:585 a ncit:C16612 . lld:C0752166 a ncit:C7057 . dgn-gda:DGNb8fe228bf3ab82105214a7154a580723 sio:SIO_000628 miriam-gene:585, lld:C0752166; a sio:SIO_001121 . } dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_provenance { dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion dcterms:description "[This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis.]. 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:15654695; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_publicationInfo { this: dcterms:created "2014-10-02T12:37:26+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" . }