@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:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_head { this: np:hasAssertion dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_assertion; np:hasProvenance dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_provenance; np:hasPublicationInfo dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_publicationInfo; a np:Nanopublication . dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_assertion a np:Assertion . dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_provenance a np:Provenance . dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_publicationInfo a np:PublicationInfo . } dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_assertion { miriam-gene:4683 a ncit:C16612 . lld:C0346153 a ncit:C7057 . dgn-gda:DGNddf0a49d1b18f9ccbbe5febc21d5063b sio:SIO_000628 miriam-gene:4683, lld:C0346153; a sio:SIO_001121 . } dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_provenance { dgn-np:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_assertion dcterms:description "[The NBS1 founder mutation was detected in 2 of 150 (1.3%) consecutive breast cancer cases diagnosed under the age of 50 years; in 3 of 80 familial breast cancer cases (3.7%); and in 3 of 530 individuals (0.6%) from the general population.]. 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:12845677; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP626509.RAjb9Lepu9bA3Xff6J5rMVMI1nlHikhSlHk0ttKAta9dE130_publicationInfo { this: dcterms:created "2014-10-02T12:38:18+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }