@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:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_head { this: np:hasAssertion dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion; np:hasProvenance dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance; np:hasPublicationInfo dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_publicationInfo; a np:Nanopublication . dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion a np:Assertion . dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance a np:Provenance . dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_publicationInfo a np:PublicationInfo . } dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion { miriam-gene:11200 a ncit:C16612 . lld:C0085390 a ncit:C7057 . dgn-gda:DGN8a161f353051809bb2f7e96c0dbb7edd sio:SIO_000628 miriam-gene:11200, lld:C0085390; a sio:SIO_001122 . } dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance { dgn-np:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion dcterms:description "[A protein-truncating mutation, 1100delC in exon 10, which abolishes the kinase function of CHEK2, has been found in families with Li-Fraumeni syndrome (LFS) and in those with a cancer phenotype that is suggestive of LFS, including breast 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:12094328; 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:NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_publicationInfo { this: dcterms:created "2015-08-25T14:46:24+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" . }