@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:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_head { this: np:hasAssertion dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_assertion; np:hasProvenance dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_provenance; np:hasPublicationInfo dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_publicationInfo; a np:Nanopublication . dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_assertion a np:Assertion . dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_provenance a np:Provenance . dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_publicationInfo a np:PublicationInfo . } dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_assertion { miriam-gene:7015 a ncit:C16612 . lld:C0019247 a ncit:C7057 . dgn-gda:DGNc0a90730aa5615811039fe896e8b030e sio:SIO_000628 miriam-gene:7015, lld:C0019247; a sio:SIO_001121 . } dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_provenance { dgn-np:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_assertion dcterms:description "[Mutations in either of the two core components of telomerase, telomerase RNA (TR) or the catalytic protein component telomerase reverse transcriptase (TERT), cause the genetic disorders dyskeratosis congenita, pulmonary fibrosis, and other degenerative diseases.]. 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:21464209; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP248186.RAfXqWDE3v-Li-yWD2rbN479Dp77aVXYdRsutxeIn3P90130_publicationInfo { this: dcterms:created "2014-10-02T12:34:18+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" . }