@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:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_head { this: np:hasAssertion dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_assertion; np:hasProvenance dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_provenance; np:hasPublicationInfo dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_publicationInfo; a np:Nanopublication . dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_assertion a np:Assertion . dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_provenance a np:Provenance . dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_assertion { miriam-gene:2956 a ncit:C16612 . lld:C0007102 a ncit:C7057 . dgn-gda:DGN52749c03a4e168863da3521f1e6fbadb sio:SIO_000628 miriam-gene:2956, lld:C0007102; a sio:SIO_001122 . } dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_provenance { dgn-np:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_assertion dcterms:description "[A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3).]. 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:23434150; 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:NP1055226.RA1QsBmh0UyF2eOT2zg6ONDLAzi7XoMAD6K12PAipzKKs130_publicationInfo { this: dcterms:created "2016-05-13T12:49:44+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" . }