@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:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_head { this: np:hasAssertion dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_assertion; np:hasProvenance dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_provenance; np:hasPublicationInfo dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_publicationInfo; a np:Nanopublication . dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_assertion a np:Assertion . dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_provenance a np:Provenance . dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_publicationInfo a np:PublicationInfo . } dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_assertion { miriam-gene:3614 a ncit:C16612 . lld:C0339525 a ncit:C7057 . dgn-gda:DGNd6742ac90cf9ab2152061b99a060de24 sio:SIO_000628 miriam-gene:3614, lld:C0339525; a sio:SIO_001121 . } dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_provenance { dgn-np:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_assertion dcterms:description "[To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene.]. 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:16038673; 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:NP298812.RAon5DQVpPaZIgXl2j2ssKtoUVX9d3Wl_jYVfb7UxMFPk130_publicationInfo { this: dcterms:created "2014-10-02T12:34:49+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" . }