[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/1277", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0029434", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/resource/gda/DGN769e75443bb66c33a478dbb61a81f3b6", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/1277" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0029434" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).]. 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/v4.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/2220807" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v4.0.0/void/befree-2016" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v4.0.0/void/befree-2016", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2016-02-19" } ] }, { "@id" : "http://rdf.disgenet.org/v4.0.0/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/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2016-05-13T12:48:55+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/v4.0.0/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/v4.0.0/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" : "v4.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v4.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP950011.RA_97agNBmFW-hl7iw_d8yTNUX1G769LF79yWSKipREfs130_publicationInfo" } ]