@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:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_head { this: np:hasAssertion dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_assertion; np:hasProvenance dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_provenance; np:hasPublicationInfo dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_publicationInfo; a np:Nanopublication . dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_assertion a np:Assertion . dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_provenance a np:Provenance . dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_publicationInfo a np:PublicationInfo . } dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_assertion { miriam-gene:582 a ncit:C16612 . lld:C0752166 a ncit:C7057 . dgn-gda:DGN29a34af7ce37be0b3df4ee42ab9067c6 sio:SIO_000628 miriam-gene:582, lld:C0752166; a sio:SIO_001121 . } dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_provenance { dgn-np:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_assertion dcterms:description "[Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7).]. 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:15266619; 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:NP299948.RAB_dUK-0HsSnYfREsDUXPfZGNm0sWcrMpGInBgkHNmik130_publicationInfo { this: dcterms:created "2014-10-02T12:34:50+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" . }