@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:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_head { this: np:hasAssertion dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_assertion; np:hasProvenance dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_provenance; np:hasPublicationInfo dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_publicationInfo; a np:Nanopublication . dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_assertion a np:Assertion . dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_provenance a np:Provenance . dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_publicationInfo a np:PublicationInfo . } dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_assertion { miriam-gene:672 a ncit:C16612 . lld:C0006142 a ncit:C7057 . dgn-gda:DGN259c960b598e9c84897595aa905159bf sio:SIO_000628 miriam-gene:672, lld:C0006142; a sio:SIO_001121 . } dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_provenance { dgn-np:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_assertion dcterms:description "[Single-nucleotide substitutions and small in-frame insertions or deletions identified in human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as variants of unknown clinical significance (VUS) due to the availability of very limited information about their functional consequences.]. 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:22678057; 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:NP988196.RA3JFpZY0fZo7qackZGTyc1u78b1buFxDKebh1jiHbvlg130_publicationInfo { this: dcterms:created "2016-05-13T12:49:13+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" . }