@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:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_head { this: np:hasAssertion dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_assertion; np:hasProvenance dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_provenance; np:hasPublicationInfo dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_publicationInfo; a np:Nanopublication . dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_assertion a np:Assertion . dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_provenance a np:Provenance . dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_publicationInfo a np:PublicationInfo . } dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_assertion { miriam-gene:3853 a ncit:C16612 . lld:C0037274 a ncit:C7057 . dgn-gda:DGN412e43405b90570f6a34fa9cd76060a4 sio:SIO_000628 miriam-gene:3853, lld:C0037274; a sio:SIO_001122 . } dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_provenance { dgn-np:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_assertion dcterms:description "[Targeting the single-nucleotide keratin 6a (K6a) N171K mutation responsible for the rare monogenic skin disorder pachyonychia congenita (PC), we demonstrate that small interfering RNAs (siRNAs) can potently and selectively block expression of mutant K6a.]. 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:17914454; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP528545.RA5YS9tQ-RMCO5pdwbS0gwWq4zlsQ_ThpR3sx0CgC2HsI130_publicationInfo { this: dcterms:created "2015-08-25T14:42:52+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }