@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:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_head { this: np:hasAssertion dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_assertion; np:hasProvenance dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_provenance; np:hasPublicationInfo dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_publicationInfo; a np:Nanopublication . dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_assertion a np:Assertion . dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_provenance a np:Provenance . dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_publicationInfo a np:PublicationInfo . } dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_assertion { miriam-gene:2056 a ncit:C16612 . lld:C0032461 a ncit:C7057 . dgn-gda:DGN927591e3412fe760b5af04e124477d21 sio:SIO_000628 miriam-gene:2056, lld:C0032461; a sio:SIO_001121 . } dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_provenance { dgn-np:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_assertion dcterms:description "[Conversely, the patient with life-long erythrocytosis is more likely to suffer from congenital polycythemia and should therefore be evaluated for germline mutations that result in enhanced Epo effect (for example, Epo receptor mutations), altered intracellular oxygen sensing (for example, mutations involving the von Hippel-Lindau tumor suppressor gene) or decreased P50 (for example, high-oxygen-affinity hemoglobinopathy).]. 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:19295544; 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:NP726848.RADpvOFsBGeuJ2Xk16ZBAQJHGfWbU1G7Wl9dVDniH8vCM130_publicationInfo { this: dcterms:created "2016-05-13T12:47:14+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" . }