http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_head http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_provenance http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion http://identifiers.org/ncbigene/472 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/C0398791 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/DGN4981dc7f53a29ba61fda9e7f662dfb3f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/472 http://rdf.disgenet.org/resource/gda/DGN4981dc7f53a29ba61fda9e7f662dfb3f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0398791 http://rdf.disgenet.org/resource/gda/DGN4981dc7f53a29ba61fda9e7f662dfb3f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_provenance http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_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/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_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/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11981817 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_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/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/dc/terms/created 2015-08-25T14:40:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP255578.RAHaPRBUq42EbefHMCftMC3eja8kZ-MEjvyXR0FhZsk60 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