@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:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_head { this: np:hasAssertion dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion; np:hasProvenance dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_provenance; np:hasPublicationInfo dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_publicationInfo; a np:Nanopublication . dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion a np:Assertion . dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_provenance a np:Provenance . dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_publicationInfo a np:PublicationInfo . } dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion { miriam-gene:5172 a ncit:C16612 . lld:C0271829 a ncit:C7057 . dgn-gda:DGN00e5e54275fab2d7ed116905dccab848 sio:SIO_000628 miriam-gene:5172, lld:C0271829; a sio:SIO_001121 . } dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_provenance { dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion dcterms:description "[The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4.]. 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:22116369; 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:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_publicationInfo { this: dcterms:created "2016-05-13T12:48:52+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" . }