@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:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_head { this: np:hasAssertion dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion; np:hasProvenance dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_provenance; np:hasPublicationInfo dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_publicationInfo; a np:Nanopublication . dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion a np:Assertion . dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_provenance a np:Provenance . dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_publicationInfo a np:PublicationInfo . } dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion { miriam-gene:2707 a ncit:C16612 . lld:C0265961 a ncit:C7057 . dgn-gda:DGN47516e2636af09d9f6ad4963fb3a8929 sio:SIO_000628 miriam-gene:2707, lld:C0265961; a sio:SIO_001121 . } dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_provenance { dgn-np:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_assertion dcterms:description "[There is now a considerable overlap with other gap junction disorders and we propose that some cases of erythrokeratodermia variabilis without mutations in either GJB3 or GJB4 but with deafness may be caused by mutations in GJB2.]. 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:16280295; 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:NP426652.RAuWssSZtZBXDnpLT0u_q6gI72ckT580r6Tyzn5b0VCDM130_publicationInfo { this: dcterms:created "2015-08-25T14:41:48+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" . }