@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:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_head { this: np:hasAssertion dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_assertion; np:hasProvenance dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_provenance; np:hasPublicationInfo dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_publicationInfo; a np:Nanopublication . dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_assertion a np:Assertion . dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_provenance a np:Provenance . dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_publicationInfo a np:PublicationInfo . } dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_assertion { miriam-gene:5728 a ncit:C16612 . lld:C0018553 a ncit:C7057 . dgn-gda:DGN999889c8ea57509329842db6d84a1e9e sio:SIO_000628 miriam-gene:5728, lld:C0018553; a sio:SIO_001121 . } dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_provenance { dgn-np:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_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:NP27543.RAExIp9fljcFUb43qJC18gmlVcurvqcVESgTkzo0fX224130_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" . }