@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:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_head { this: np:hasAssertion dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion; np:hasProvenance dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_provenance; np:hasPublicationInfo dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_publicationInfo; a np:Nanopublication . dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion a np:Assertion . dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_provenance a np:Provenance . dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_publicationInfo a np:PublicationInfo . } dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion { miriam-gene:2703 a ncit:C16612 . lld:C0009691 a ncit:C7057 . dgn-gda:DGNeac4dad241a1b7885885a47c7b71b98c sio:SIO_000628 miriam-gene:2703, lld:C0009691; a sio:SIO_001121 . } dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_provenance { dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion dcterms:description "[The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye.]. 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:20806042; 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:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_publicationInfo { this: dcterms:created "2014-10-02T12:38:24+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" . }