@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:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_head { this: np:hasAssertion dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_assertion; np:hasProvenance dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_provenance; np:hasPublicationInfo dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_publicationInfo; a np:Nanopublication . dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_assertion a np:Assertion . dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_provenance a np:Provenance . dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_publicationInfo a np:PublicationInfo . } dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_assertion { miriam-gene:5727 a ncit:C16612 . lld:C0812437 a ncit:C7057 . dgn-gda:DGNcbeca5401e376bc84171b6b1c77d3a49 sio:SIO_000628 miriam-gene:5727, lld:C0812437; a sio:SIO_001121 . } dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_provenance { dgn-np:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_assertion dcterms:description "[Unresolved complexities of the pathway impede understanding of mechanisms through which PTCH alterations lead to variable phenotype expression in Gorlin syndrome patients, while the role of chromosomal instability is not yet clear.]. 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:10653132; 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:NP273698.RA-RPInIMtZyxpVE-cL7FAaWT9Gpp7kMpVlS2ldPcElKo130_publicationInfo { this: dcterms:created "2016-05-13T12:43:50+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" . }