@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:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_head { this: np:hasAssertion dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_assertion; np:hasProvenance dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_provenance; np:hasPublicationInfo dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_publicationInfo; a np:Nanopublication . dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_assertion a np:Assertion . dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_provenance a np:Provenance . dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_publicationInfo a np:PublicationInfo . } dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_assertion { miriam-gene:675 a ncit:C16612 . lld:C0006142 a ncit:C7057 . dgn-gda:DGNc377cfa299f787635188480d3b6a4791 sio:SIO_000628 miriam-gene:675, lld:C0006142; a sio:SIO_001121 . } dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_provenance { dgn-np:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_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:NP988197.RASvwZqivOgR7Gyg0Fl3X4a2iENkbDBjco8m0cCJB1mPs130_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" . }