[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN584e70b48e3470dfc6c5a7f54b2a3233", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/157570" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0376634" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[To determine whether ESCO2 mutations are also responsible for SC, we studied three families with SC and two families in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound, led to pregnancy terminations.All cases were positive for HR.]. 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/v5.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/16380922" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2017-02-19" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/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/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:19:09+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/v5.0.0/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/v5.0.0/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" : "v5.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v5.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP1411568.RAl0Kr6Dpe9uV3uDw9iNMX3TDs0EdKQFAHCExU5k91MKY#publicationInfo" } ]