@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:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_head { this: np:hasAssertion dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_assertion; np:hasProvenance dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_provenance; np:hasPublicationInfo dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_publicationInfo; a np:Nanopublication . dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_assertion a np:Assertion . dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_provenance a np:Provenance . dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_publicationInfo a np:PublicationInfo . } dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_assertion { miriam-gene:3299 a ncit:C16612 . lld:C0086543 a ncit:C7057 . dgn-gda:DGNcdb1b92202f817764f6bb70a746c6f22 sio:SIO_000628 miriam-gene:3299, lld:C0086543; a sio:SIO_001121 . } dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_provenance { dgn-np:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_assertion dcterms:description "[Although the role of the four studied genes: PAX6, PITX3, HSF4 and LIM2 in both ocular and central nervous system development, we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, MR and microcephaly.]. 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:22103961; 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:NP662887.RAimVr6qR1OSfSTwcTg0scjSsSGm01Vd0OWDCns7m5mXU130_publicationInfo { this: dcterms:created "2014-10-02T12:38:40+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" . }