[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/6576", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0018609", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/resource/gda/DGN6b8b5a9a9a66ed419bf7c57f625e0f57", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/6576" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0018609" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[21 patients had deletional Hb H disease (- -/- alpha), namely combinations of one of four types of alpha-thal-1 (MED-I, MED-II, -(alpha)20.5, SEA) and one of two types of alpha-thal-2 (-3.7 or -4.2 kb); 13 had Hb H disease because of combinations of one of these alpha-thal-1 deletions with either a 5 nt deletion at the 5' splicing site of IVS-I, or a terminating codon mutation (Hb CS), or a poly(A) mutation, and six were homozygous for either a poly(A) mutation or the 5 nt deletion.]. 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/8781536" } ], "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/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2015-08-25T14:44:43+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/NP701212.RAcrK-wfORQDAg1mfERMdDxbYNlY98p6LZIib4jLdp748130_publicationInfo" } ]