@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:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_head { this: np:hasAssertion dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_assertion; np:hasProvenance dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_provenance; np:hasPublicationInfo dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_publicationInfo; a np:Nanopublication . dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_assertion a np:Assertion . dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_provenance a np:Provenance . dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_publicationInfo a np:PublicationInfo . } dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_assertion { miriam-gene:5624 a ncit:C16612 . lld:C1333990 a ncit:C7057 . dgn-gda:DGN3823db0cd2a884f1034856c3e6c8e8ed sio:SIO_000628 miriam-gene:5624, lld:C1333990; a sio:SIO_001121 . } dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_provenance { dgn-np:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_assertion dcterms:description "[This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation.]. 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:15264268; 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:NP452717.RAT-r7_e-pb2FP1NWq7jVbLfm6RQQHXCOaC4kNwpp7neA130_publicationInfo { this: dcterms:created "2016-05-13T12:45:10+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" . }