@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:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_head { this: np:hasAssertion dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_assertion; np:hasProvenance dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_provenance; np:hasPublicationInfo dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_publicationInfo; a np:Nanopublication . dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_assertion a np:Assertion . dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_provenance a np:Provenance . dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_assertion { miriam-gene:1201 a ncit:C16612 . lld:C0751383 a ncit:C7057 . dgn-gda:DGN719dbbdf76bbbcb9a2272879d767efbd sio:SIO_000628 miriam-gene:1201, lld:C0751383; a sio:SIO_001121 . } dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_provenance { dgn-np:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_assertion dcterms:description "[In an attempt to understand the molecular nature of Batten disease, we have examined the amino acid sequence of the affected CLN3 gene product (The International Batten Disease Consortium (1995) Cell 82, 949-957) and the site-specific mutations which give rise to the biological defect.]. 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:8980123; 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:NP1364857.RAw_Tk-MMRAoiUmPFENap_WfCUE-A1sqLzmKfn1RYnZzs130_publicationInfo { this: dcterms:created "2016-05-13T12:52:04+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" . }