@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:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_head { this: np:hasAssertion dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion; np:hasProvenance dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_provenance; np:hasPublicationInfo dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_publicationInfo; a np:Nanopublication . dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion a np:Assertion . dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_provenance a np:Provenance . dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_publicationInfo a np:PublicationInfo . } dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion { miriam-gene:675 a ncit:C16612 . lld:C0346153 a ncit:C7057 . dgn-gda:DGN1386ba3ea8ce91d283debe90aa7ca0e5 sio:SIO_000628 miriam-gene:675, lld:C0346153; a sio:SIO_001122 . } dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_provenance { dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion dcterms:description "[The results of our studies suggest that a large proportion of familial breast cancer in Iceland is the result of the 999del5 BRCA2 mutation, and it is unlikely that BRCA1 and BRCA2 germline mutations other than 999del5 and G5193A play a significant role in hereditary breast cancer in Iceland.]. 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:9643283; 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:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_publicationInfo { this: dcterms:created "2016-05-13T12:52:20+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" . }