@prefix dct: . @prefix orcid: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_head { this: np:hasAssertion dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_assertion; np:hasProvenance dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_provenance; np:hasPublicationInfo dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_publicationInfo; a np:Nanopublication . dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_assertion a np:Assertion . dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_provenance a np:Provenance . dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_publicationInfo a np:PublicationInfo . } dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_assertion { miriam-gene:2706 a ncit:C16612 . lld:C0011053 a ncit:C7057 . dgn-gda:DGN61e70c3615e8ad94feac1597cd4a55e1 sio:SIO_000628 miriam-gene:2706, lld:C0011053; a sio:SIO_001122 . } dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_provenance { dgn-np:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_assertion dct:description "[To develop a rapid genetic diagnosis technique for the patients with hereditary hearing loss by screening hot spots of mutations, namely 235delC of the GJB2 gene, IVS7-2A>G of the SLC26A4 gene, and 1555A>G of mitochondrial 12S rRNA.]. 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:19806571; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP43560.RAf7geTFbUYtq8hhoKspk8Rtf0Vs3shyKUXqeGBkcq6q8130_publicationInfo { this: dct:created "2014-10-02T12:32:19+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }