@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:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_head { this: np:hasAssertion dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion; np:hasProvenance dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance; np:hasPublicationInfo dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_publicationInfo; a np:Nanopublication . dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion a np:Assertion . dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance a np:Provenance . dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_publicationInfo a np:PublicationInfo . } dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion { miriam-gene:6785 a ncit:C16612 . lld:C0730294 a ncit:C7057 . dgn-gda:DGNc853821eafe7319e11a1d72ae2a5d3b2 sio:SIO_000628 miriam-gene:6785, lld:C0730294; a sio:SIO_001121 . } dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance { dgn-np:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion dcterms:description "[We have therefore assessed the entire coding region of IMPG1 by exon amplification and subsequent single stranded conformational analysis in patients from 6q linked multigeneration families diagnosed with PBCRA and MCDR1, as well as a single patient from an autosomal dominant STGD pedigree unlinked to either of the two known STGD2 and STGD3 loci on chromosomes 13q and 6q, respectively.]. 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:9719369; 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:NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_publicationInfo { this: dcterms:created "2014-10-02T12:37:01+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" . }