@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:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_head { this: np:hasAssertion dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_assertion; np:hasProvenance dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_provenance; np:hasPublicationInfo dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_publicationInfo; a np:Nanopublication . dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_assertion a np:Assertion . dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_provenance a np:Provenance . dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_publicationInfo a np:PublicationInfo . } dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_assertion { miriam-gene:6469 a ncit:C16612 . lld:C0043346 a ncit:C7057 . dgn-gda:DGNcc8faaeace23fadde8b7c752149e4aa8 sio:SIO_000628 miriam-gene:6469, lld:C0043346; a sio:SIO_001121 . } dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_provenance { dgn-np:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_assertion dcterms:description "[Mutations in the receptor of SHH, the patched gene, have been characterized in sporadic BCCs as well as those from patients with the rare genetic syndromes nevoid BCC and xeroderma pigmentosum (XP).]. 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:12499255; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP378635.RALjTih68f-rXARinPsP7FM_elM1Yau17VIxAH4F49wHs130_publicationInfo { this: dcterms:created "2016-05-13T12:44:37+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }