@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:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_head { this: np:hasAssertion dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion; np:hasProvenance dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_provenance; np:hasPublicationInfo dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_publicationInfo; a np:Nanopublication . dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion a np:Assertion . dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_provenance a np:Provenance . dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion { miriam-gene:2707 a ncit:C16612 . lld:C0265961 a ncit:C7057 . dgn-gda:DGN101b39b9cd5bc1a5fed0e8e08276eed2 sio:SIO_000628 miriam-gene:2707, lld:C0265961; a sio:SIO_001121 . } dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_provenance { dgn-np:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_assertion dcterms:description "[Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively.In this issue, Boyden et al.]. 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:25964267; 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:NP1283434.RAbOVSdk45dEAx6PR5UNWFYfCvcaB5-E01QoLbY9MASvs130_publicationInfo { this: dcterms:created "2016-05-13T12:51:28+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" . }