http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_head http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_provenance http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://identifiers.org/ncbigene/7015 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0085662 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN951889c3bc0a2652de337261d2291bce http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7015 http://rdf.disgenet.org/resource/gda/DGN951889c3bc0a2652de337261d2291bce http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085662 http://rdf.disgenet.org/resource/gda/DGN951889c3bc0a2652de337261d2291bce http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_provenance http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://purl.org/dc/terms/description [In six generations of a large family, a loss-of-function mutation in the telomerase enzyme gene TERT associated with severe telomere shortening and a range of hematologic manifestations, from macrocytosis to acute myeloid leukemia, with severe liver diseases marked by fibrosis and inflammation, and one case of idiopathic pulmonary fibrosis but not with autoimmune disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19936245 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/dc/terms/created 2015-08-25T14:44:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP728497.RAZw1BLagj5uLMfzaM0TzTAK1zA_1T0E6s6ee8t9SDd6o http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0