http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#head http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#assertion http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#provenance http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#assertion http://rdf.disgenet.org/resource/gda/DGN0495e30ea17e43e458511bd8181f5b0d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4683 http://rdf.disgenet.org/resource/gda/DGN0495e30ea17e43e458511bd8181f5b0d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0398791 http://rdf.disgenet.org/resource/gda/DGN0495e30ea17e43e458511bd8181f5b0d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#provenance http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#assertion http://purl.org/dc/terms/description [Ataxia-Telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic diseases with similar cellular phenotypes that are caused by mutations in the recently described ATM (encoding ATM) and NBS1 (encoding p95) genes, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#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/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11981817 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#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/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/dc/terms/created 2017-10-17T13:14:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP743602.RAfiXAfpRKKP7Pl4C7HcqMc77RllH_wKvC_zWyIzrAO2c 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