[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN1f9a9e8984f52beda9a310754abc8a7c", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/6520" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0221054" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Authors describe clinical, pathological, imaging and genetic findings in the first Irish family with Laing distal myopathy in whom a novel mutation in the human slow ?-myosin heavy chain (MYH7) gene has been identified.]. 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/25447691" } ], "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/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:16:14+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/NP949024.RAq9nGgDkmBRZqWKpZo2X_SCpsp3w4MJqKGKeMz0ijCO0#publicationInfo" } ]