http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_head
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_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/C0265965
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/gene-disease-association.ttl#DGNb1d8142a5e2fc2a71a353ea915341904
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7015
http://rdf.disgenet.org/gene-disease-association.ttl#DGNb1d8142a5e2fc2a71a353ea915341904
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265965
http://rdf.disgenet.org/gene-disease-association.ttl#DGNb1d8142a5e2fc2a71a353ea915341904
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://purl.org/dc/terms/description
[Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein particles; autosomal dominant (AD) DC has heterozygous mutations in either TERC or TERT, the RNA and enzymatic components of telomerase, respectively, and autosomal recessive DC in which the genes involved remain largely elusive.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18005359
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/dc/terms/created
2014-10-02T12:37:00+02:00
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP504080.RAKgzBtbQZKO9UVv58Qy9Ra02Tpc4q9F4WNBkZMYZYIQw
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0