@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:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_head { this: np:hasAssertion dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion; np:hasProvenance dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_provenance; np:hasPublicationInfo dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_publicationInfo; a np:Nanopublication . dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion a np:Assertion . dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_provenance a np:Provenance . dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_publicationInfo a np:PublicationInfo . } dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion { miriam-gene:5728 a ncit:C16612 . lld:C0175704 a ncit:C7057 . dgn-gda:DGNedf8db5f7ca0c3ed686ad1561e455c63 sio:SIO_000628 miriam-gene:5728, lld:C0175704; a sio:SIO_001121 . } dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_provenance { dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion dcterms:description "[This report provides clinical evidence that both BRR and CD are closely related and confirms the PTEN gene mutation in BRR and CD patients segregating in the same family, thus confirming the genetic linkage between the two genodermatoses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:11685670; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_publicationInfo { this: dcterms:created "2014-10-02T12:32:11+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" . }