@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:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_head { this: np:hasAssertion dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_assertion; np:hasProvenance dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_provenance; np:hasPublicationInfo dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_publicationInfo; a np:Nanopublication . dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_assertion a np:Assertion . dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_provenance a np:Provenance . dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_publicationInfo a np:PublicationInfo . } dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_assertion { miriam-gene:5573 a ncit:C16612 . lld:C0010481 a ncit:C7057 . dgn-gda:DGNfdb0caea944d0797e7e4f47105a7f32b sio:SIO_000628 miriam-gene:5573, lld:C0010481; a sio:SIO_001122 . } dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_provenance { dgn-np:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_assertion dcterms:description "[A base substitution (c.439A>G/p.S147G) in PRKAR1A was identified in the proposita, in the three others with PPNAD, in the proposita's twin daughters who had lentigines but no evidence of hypercortisolism, and in five other family members, including one without lentigines or evidence of hypercortisolism.]. 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:22112814; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP642191.RAVkGlCPNeLci47xHTIOGR7C6FT1lpA0tpHThVtXvMTbI130_publicationInfo { this: dcterms:created "2015-08-25T14:44:05+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }