@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:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_head { this: np:hasAssertion dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_assertion; np:hasProvenance dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_provenance; np:hasPublicationInfo dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_publicationInfo; a np:Nanopublication . dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_assertion a np:Assertion . dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_provenance a np:Provenance . dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_publicationInfo a np:PublicationInfo . } dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_assertion { miriam-gene:2706 a ncit:C16612 . lld:C2931923 a ncit:C7057 . dgn-gda:DGN77d67e499d3c3d437ab08e08aa6b11fa sio:SIO_000628 miriam-gene:2706, lld:C2931923; a sio:SIO_001122 . } dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_provenance { dgn-np:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_assertion dcterms:description "[Therefore, we hypothesize that focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases.]. 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:18787097; 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:NP426570.RAr8ZOCHqOdXB-a-pCponura_IPgDjR3HwahVsck2Ll68130_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" . }