@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:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_head { this: np:hasAssertion dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_assertion; np:hasProvenance dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_provenance; np:hasPublicationInfo dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_publicationInfo; a np:Nanopublication . dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_assertion a np:Assertion . dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_provenance a np:Provenance . dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_publicationInfo a np:PublicationInfo . } dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_assertion { miriam-gene:2707 a ncit:C16612 . lld:C0011053 a ncit:C7057 . dgn-gda:DGN37c422554add054a3a79e3bdb52c49c3 sio:SIO_000628 miriam-gene:2707, lld:C0011053; a sio:SIO_001122 . } dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_provenance { dgn-np:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_assertion dcterms:description "[In the years 2005-2007 we have screened 194 probands with early onset hearing loss and 68 family members with an arrayed primer extension (APEX) microarray, which covers 201 mutations in six nuclear genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5) and two mitochondrial genes encoding 12S rRNA and tRNA-Ser (UCN).]. 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:19027966; 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:NP74447.RAXMOVkTaksCUgnB-Y0vmM17Y6keUAoAP5_-bfiRfKNm8130_publicationInfo { this: dcterms:created "2014-10-02T12:32:36+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }