@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:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_head { this: np:hasAssertion dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_assertion; np:hasProvenance dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_provenance; np:hasPublicationInfo dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_publicationInfo; a np:Nanopublication . dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_assertion a np:Assertion . dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_provenance a np:Provenance . dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_publicationInfo a np:PublicationInfo . } dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_assertion { miriam-gene:5172 a ncit:C16612 . lld:C0266589 a ncit:C7057 . dgn-gda:DGN35bb806f1244e9068e85e747f097196e sio:SIO_000628 miriam-gene:5172, lld:C0266589; a sio:SIO_001121 . } dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_provenance { dgn-np:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_assertion dcterms:description "[In order to verify this hypothesis, we surveyed mutations in the SLC26A4(PDS) gene, which were documented to cause enlarged vestibular aqueduct (EVA) and Mondini's dysplasia (incomplete partition of the cochlea), in 35 families with various types of inner ear malformations.]. 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:15905611; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP192776.RAZmvCbspSJ0s90cJ-FjgSDY0t73D1zcukZbeNF2Pwpxo130_publicationInfo { this: dcterms:created "2014-10-02T12:33:46+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" . }