@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:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_head { this: np:hasAssertion dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion; np:hasProvenance dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_provenance; np:hasPublicationInfo dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_publicationInfo; a np:Nanopublication . dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion a np:Assertion . dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_provenance a np:Provenance . dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_publicationInfo a np:PublicationInfo . } dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion { miriam-gene:2706 a ncit:C16612 . lld:C0155552 a ncit:C7057 . dgn-gda:DGN5623b4dec3878fc5efab1459c0f6d022 sio:SIO_000628 miriam-gene:2706, lld:C0155552; a sio:SIO_001121 . } dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_provenance { dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion dcterms:description "[Mutations in the gene GJB2, encoding the gap junction protein Connexin26 (Cx26), are the most prevalent cause of inherited hearing loss, and Cx26M34T was one of the first mutations linked to deafness (Kelsell et al., 1997; Nature 387, 80-83).]. 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:15033936; 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:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_publicationInfo { this: dcterms:created "2016-05-13T12:45:03+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" . }