@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:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_head { this: np:hasAssertion dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_assertion; np:hasProvenance dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_provenance; np:hasPublicationInfo dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_publicationInfo; a np:Nanopublication . dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_assertion a np:Assertion . dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_provenance a np:Provenance . dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_publicationInfo a np:PublicationInfo . } dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_assertion { miriam-gene:525 a ncit:C16612 . lld:C1863752 a ncit:C7057 . dgn-gda:DGN38815890498263f6aa9c76dc66b527d9 sio:SIO_000628 miriam-gene:525, lld:C1863752; a sio:SIO_001121 . } dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_provenance { dgn-np:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_assertion dcterms:description "[Our study confirms the association of EVA and mutations in the ATP6V1B1 gene and demonstrates that mutations in the ATP6V0A4 gene can also be associated with EVA probably only when the SNHL has an early onset.]. 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:19639346; 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:NP754126.RAHQQxpNThiP-nHyPuVFHD_p4r80Z88m-j4BN5iHCw_6g130_publicationInfo { this: dcterms:created "2016-05-13T12:47:27+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" . }