@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:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_head { this: np:hasAssertion dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_assertion; np:hasProvenance dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_provenance; np:hasPublicationInfo dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_publicationInfo; a np:Nanopublication . dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_assertion a np:Assertion . dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_provenance a np:Provenance . dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_publicationInfo a np:PublicationInfo . } dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_assertion { miriam-gene:2706 a ncit:C16612 . lld:C3665333 a ncit:C7057 . dgn-gda:DGN6e5a309adbaba7f6ca7920d902e91bb5 sio:SIO_000628 miriam-gene:2706, lld:C3665333; a sio:SIO_001121 . } dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_provenance { dgn-np:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_assertion dcterms:description "[In an observational cohort study, GJB2 mutation analysis was performed using polymerase chain reaction amplification and direct sequencing on 31 prelingually deaf pediatric cochlear implantees, of which there were 30 with nonsyndromic deafness of unknown etiology, and one with keratitis-ichthyosis-deafness syndrome.]. 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:15547422; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP469192.RAt24W1z06kxqrTG41cC7vR-b0rC8ioFxUmeKSIb2ZSGI130_publicationInfo { this: dcterms:created "2016-05-13T12:45:17+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }