@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:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_head { this: np:hasAssertion dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_assertion; np:hasProvenance dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_provenance; np:hasPublicationInfo dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_publicationInfo; a np:Nanopublication . dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_assertion a np:Assertion . dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_provenance a np:Provenance . dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_publicationInfo a np:PublicationInfo . } dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_assertion { miriam-gene:672 a ncit:C16612 . lld:C0006142 a ncit:C7057 . dgn-gda:DGN3564af8482adf43ae41a2c779df3808d sio:SIO_000628 miriam-gene:672, lld:C0006142; a sio:SIO_001122 . } dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_provenance { dgn-np:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_assertion dcterms:description "[Such compensation of the 1100delC defect in CHEK2 might explain the rather low breast cancer risk associated with the CHEK2 variant, compared to that associated with truncating mutations in BRCA1 or BRCA2.]. 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:15700044; 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:NP479918.RAn-TBA2ywPTf3VZ-GLVYdR_irdriMioglwXJKpacUSFo130_publicationInfo { this: dcterms:created "2016-05-13T12:45:22+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }