@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:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_head { this: np:hasAssertion dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_assertion; np:hasProvenance dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_provenance; np:hasPublicationInfo dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_publicationInfo; a np:Nanopublication . dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_assertion a np:Assertion . dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_provenance a np:Provenance . dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_publicationInfo a np:PublicationInfo . } dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_assertion { miriam-gene:57082 a ncit:C16612 . lld:C3711387 a ncit:C7057 . dgn-gda:DGN732e19360b923d49ccd5c9f49711ec3b sio:SIO_000628 miriam-gene:57082, lld:C3711387; a sio:SIO_001121 . } dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_provenance { dgn-np:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_assertion dcterms:description "[Here, we report a mutation of CASC5 (aka Blinkin, or KNL1, or hSPC105) in MCPH patients from three consanguineous families, in one of which we initially reported the MCPH4 locus.]. 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:22983954; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP927770.RAowVPJJUzHj7zCCBbMt-HQ_4-WjPD7loaBpJmDoA3K8E130_publicationInfo { this: dcterms:created "2015-08-25T14:47:06+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }