@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:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_head { this: np:hasAssertion dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_assertion; np:hasProvenance dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_provenance; np:hasPublicationInfo dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_publicationInfo; a np:Nanopublication . dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_assertion a np:Assertion . dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_provenance a np:Provenance . dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_publicationInfo a np:PublicationInfo . } dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_assertion { miriam-gene:8621 a ncit:C16612 . lld:C1857572 a ncit:C7057 . dgn-gda:DGNd08d9ef87fa4d720ecc9c874dde2fa25 sio:SIO_000628 miriam-gene:8621, lld:C1857572; a sio:SIO_001121 . } dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_provenance { dgn-np:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_assertion dcterms:description "[A genotype study on six families with CDPD and on one family with either CHED or CDPD, from various ethnic backgrounds (in the seventh family, hearing loss could not be assessed because of the proband's young age), is reported here.]. 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:17220209; 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:NP528757.RAc-2FSXJJ021_lJrLMFiMtVINwESWDtuf1Vyjp10c7I4130_publicationInfo { this: dcterms:created "2014-10-02T12:37:19+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" . }