http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#head
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#provenance
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://rdf.disgenet.org/resource/gda/DGNb0b33eebd6651af3ec1bd2756019f608
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7015
http://rdf.disgenet.org/resource/gda/DGNb0b33eebd6651af3ec1bd2756019f608
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0002874
http://rdf.disgenet.org/resource/gda/DGNb0b33eebd6651af3ec1bd2756019f608
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#provenance
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17640862
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/dc/terms/created
2017-10-17T13:16:36+02:00
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1007183.RApRrUSxNHjuucUlEOxVeb1EaAA-ajtv4EeLzPbV_Deh8
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0