@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:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_head { this: np:hasAssertion dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_assertion; np:hasProvenance dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_provenance; np:hasPublicationInfo dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_publicationInfo; a np:Nanopublication . dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_assertion a np:Assertion . dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_provenance a np:Provenance . dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_assertion { miriam-gene:652 a ncit:C16612 . lld:C0001614 a ncit:C7057 . dgn-gda:DGNdb531cbfde1d14e3696feb5c5298f27a sio:SIO_000628 miriam-gene:652, lld:C0001614; a sio:SIO_001121 . } dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_provenance { dgn-np:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_assertion dcterms:description "[Cultured fibroblasts from affected individuals have structural abnormalities of the cilia and exhibit downregulation of BMP4, WNT5A, and WNT2B, which are key regulators of cortical patterning and are expressed at the cortical hem, the cortex-organizing center that gives rise to Cajal-Retzius (CR) neurons.]. 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:22939636; 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:NP733392.RAf_2EcLyfjetL3EHd4ljlp_dK1OycRdp13fPkbiuhjtQ130_publicationInfo { this: dcterms:created "2014-10-02T12:39:25+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" . }