@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:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_head { this: np:hasAssertion dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_assertion; np:hasProvenance dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_provenance; np:hasPublicationInfo dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_publicationInfo; a np:Nanopublication . dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_assertion a np:Assertion . dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_provenance a np:Provenance . dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_publicationInfo a np:PublicationInfo . } dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_assertion { miriam-gene:5728 a ncit:C16612 . lld:C0850572 a ncit:C7057 . dgn-gda:DGNa3bd9bddbdad8bf173c0666747ed95b8 sio:SIO_000628 miriam-gene:5728, lld:C0850572; a sio:SIO_001121 . } dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_provenance { dgn-np:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_assertion dcterms:description "[This study is the first to show that the mutational abrogation of PTEN/MMAC1 plays a causal role in the genesis of gastrointestinal polyps in Cowden disease, providing molecular genetic evidence that colonic adenoma, juvenile polyp, and gastric hamartoma could be included in the manifestations of Cowden disease.]. 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:9797362; 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:NP785822.RAHevlIIjRnUmd0PZR8-PAxgIx1rxepXOBu2H19rCW0cA130_publicationInfo { this: dcterms:created "2014-10-02T12:39:56+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" . }