@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:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_head { this: np:hasAssertion dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion; np:hasProvenance dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_provenance; np:hasPublicationInfo dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_publicationInfo; a np:Nanopublication . dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion a np:Assertion . dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_provenance a np:Provenance . dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_publicationInfo a np:PublicationInfo . } dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion { miriam-gene:5727 a ncit:C16612 . lld:C0376634 a ncit:C7057 . dgn-gda:DGN161171e3aa26761e14ac441c3022bbb7 sio:SIO_000628 miriam-gene:5727, lld:C0376634; a sio:SIO_001121 . } dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_provenance { dgn-np:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_assertion dcterms:description "[This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.]. 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:18539553; 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:NP27485.RATLxEQRopBQcxVoIu2K9w6bw0h4fgrM4eRG-UcuN5_WU130_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" . }