@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:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_head { this: np:hasAssertion dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion; np:hasProvenance dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_provenance; np:hasPublicationInfo dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_publicationInfo; a np:Nanopublication . dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion a np:Assertion . dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_provenance a np:Provenance . dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_publicationInfo a np:PublicationInfo . } dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion { miriam-gene:24 a ncit:C16612 . lld:C0339526 a ncit:C7057 . dgn-gda:DGN0cdcd7caa1361b5dead4582b05d6e39a sio:SIO_000628 miriam-gene:24, lld:C0339526; a sio:SIO_001121 . } dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_provenance { dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion dcterms:description "[However, a gene for autosomal recessive retinitis pigmentosa with distinctive features of choriocapillaris atrophy at an advanced stage (RP19) has been mapped to the genetic interval encompassing the STGD gene on chromosome 1p (D1S435-D1S236), raising the question of whether, despite striking differences in clinical course and presentation, RP19 and STGD might be allelic disorders at the ABCR locus.]. 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:10874631; 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:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_publicationInfo { this: dcterms:created "2014-10-02T12:34:39+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" . }