@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:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_head { this: np:hasAssertion dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_assertion; np:hasProvenance dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_provenance; np:hasPublicationInfo dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_publicationInfo; a np:Nanopublication . dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_assertion a np:Assertion . dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_provenance a np:Provenance . dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_publicationInfo a np:PublicationInfo . } dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_assertion { miriam-gene:11146 a ncit:C16612 . lld:C1306459 a ncit:C7057 . dgn-gda:DGNf011a16878841b5144a83e003264e176 sio:SIO_000628 miriam-gene:11146, lld:C1306459; a sio:SIO_001121 . } dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_provenance { dgn-np:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_assertion dcterms:description "[A constitutional single base pair substitution at codon 1317 was observed in two of the siblings with colorectal cancer, but neither exhibited any colonic features typical of FAP nor an early onset of cancer.]. 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:8834176; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP860691.RAwo9-L8hg3jNkHoHtk5c_dLxc0dlUJKB1YcK9rLcd-7E130_publicationInfo { this: dcterms:created "2015-08-25T14:46:22+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }