@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:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_head { this: np:hasAssertion dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_assertion; np:hasProvenance dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_provenance; np:hasPublicationInfo dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_publicationInfo; a np:Nanopublication . dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_assertion a np:Assertion . dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_provenance a np:Provenance . dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_publicationInfo a np:PublicationInfo . } dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_assertion { miriam-gene:166379 a ncit:C16612 . lld:C0752166 a ncit:C7057 . dgn-gda:DGNf8f45ab802e5f64c9a2397903f692542 sio:SIO_000628 miriam-gene:166379, lld:C0752166; a sio:SIO_001121 . } dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_provenance { dgn-np:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_assertion dcterms:description "[Our data demonstrate that BBS6, BBS10, and BBS12 are necessary for BBSome assembly, and that impaired BBSome assembly contributes to the etiology of BBS phenotypes associated with the loss of function of these three BBS genes.]. 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:20080638; 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:NP787561.RAHec8jAU2bddah_hACPo6KGvAyEHpBHu89InJCiwHzX8130_publicationInfo { this: dcterms:created "2016-05-13T12:47:42+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" . }