[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/55655", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0025362", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/resource/gda/DGNe39f3dcc8455e0c70fc5476f72c8a720", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/55655" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0025362" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Other 'A-T variants' include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with microcephaly and mental retardation but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." } ], "http://purl.org/ontology/wi/core#evidence" : [ { "@id" : "http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/15279807" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v3.0.0/void/befree-20150227" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v3.0.0/void/befree-20150227", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2015-02-27" } ] }, { "@id" : "http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature", "@type" : [ "http://purl.obolibrary.org/obo/ECO_0000212" ], "http://www.w3.org/2000/01/rdf-schema#comment" : [ { "@language" : "en", "@value" : "Gene-disease associations inferred from text-mining the literature." } ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@language" : "en", "@value" : "DisGeNET evidence - LITERATURE" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2015-08-25T14:47:02+02:00" } ], "http://purl.org/dc/terms/rights" : [ { "@id" : "http://opendatacommons.org/licenses/odbl/1.0/" } ], "http://purl.org/dc/terms/rightsHolder" : [ { "@id" : "http://rdf.disgenet.org/v3.0.0/void/IBIGroup" } ], "http://purl.org/dc/terms/subject" : [ { "@id" : "http://semanticscience.org/resource/SIO_000983" } ], "http://purl.org/net/provenance/ns#usedData" : [ { "@id" : "http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf" } ], "http://purl.org/pav/authoredBy" : [ { "@id" : "http://orcid.org/0000-0001-5999-6269" }, { "@id" : "http://orcid.org/0000-0002-7534-7661" }, { "@id" : "http://orcid.org/0000-0002-9383-528X" }, { "@id" : "http://orcid.org/0000-0003-0169-8159" }, { "@id" : "http://orcid.org/0000-0003-1244-7654" } ], "http://purl.org/pav/createdBy" : [ { "@id" : "http://orcid.org/0000-0003-0169-8159" } ], "http://purl.org/pav/version" : [ { "@value" : "v3.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v3.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP919977.RA0gJgbd2GCje3SQQtFADTzkH7CtQbgnWHPxHkLlx8Q7M130_publicationInfo" } ]