@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:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_head { this: np:hasAssertion dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_assertion; np:hasProvenance dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_provenance; np:hasPublicationInfo dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_publicationInfo; a np:Nanopublication . dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_assertion a np:Assertion . dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_provenance a np:Provenance . dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_publicationInfo a np:PublicationInfo . } dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_assertion { miriam-gene:55835 a ncit:C16612 . lld:C0025958 a ncit:C7057 . dgn-gda:DGN6d2be290c8f849249f14e2a067fd7813 sio:SIO_000628 miriam-gene:55835, lld:C0025958; a sio:SIO_001121 . } dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_provenance { dgn-np:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_assertion dcterms:description "[CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.]. 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:20522431; 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:NP248020.RAQ2oCxsHChYbIDQ_Ep5hLNmVI4hJcPtc0x72-sR8FnGc130_publicationInfo { this: dcterms:created "2014-10-02T12:34:18+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" . }