@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:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_head { this: np:hasAssertion dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_assertion; np:hasProvenance dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_provenance; np:hasPublicationInfo dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_publicationInfo; a np:Nanopublication . dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_assertion a np:Assertion . dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_provenance a np:Provenance . dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_publicationInfo a np:PublicationInfo . } dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_assertion { miriam-gene:7015 a ncit:C16612 . lld:C1851970 a ncit:C7057 . dgn-gda:DGNc54a0afa5f6ea27bfe791760f47c03ed sio:SIO_000628 miriam-gene:7015, lld:C1851970; a sio:SIO_001121 . } dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_provenance { dgn-np:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_assertion dcterms:description "[Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that telomerase function is defective and that this is associated with short telomeres.]. 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:17640862; 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:NP620986.RAGPDaTFHAR-U88jqpzgT1N2TCvEQVAJJs-6-OYUUkeHg130_publicationInfo { this: dcterms:created "2016-05-13T12:46:27+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" . }