[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/28509", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0007959", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGNed280c581da0b27710c1201ee094d8fc", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/28509" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0007959" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Reported onset phenomena consisted of confusion, headache, focal neurological symptoms and nausea; (ii) many patients show an early and severe sensorineural hearing loss; (iii) although they have mothers with the adult onset type, the four affected subjects from the youngest generation do not show any signs or symptoms of childhood or congenital myotonic dystrophy; (iv) the neuropathy meets the criteria of an intermediate type Charcot-Marie-Tooth (CMT), and is more severe in males; and (v) patients presented with an expanded fragment at the DM1 CTG repeat but this allele was refractory to PCR amplification and triplet repeat primed PCR at the 3' end of the array, indicating the existence of an additional lesion at the 3' end.]. 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/v2.1.0/void.ttl#source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/19321466" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/eco.owl#ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225", "http://purl.org/pav/2.0/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2014-02-25" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature", "@type" : [ "http://purl.obolibrary.org/obo/eco.owl#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/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2014-10-02T12:38:24+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/v2.1.0/void.ttl#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/v2.1.0/void.ttl#disgenetrdf" } ], "http://purl.org/pav/2.0/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/2.0/createdBy" : [ { "@id" : "http://orcid.org/0000-0003-0169-8159" } ], "http://purl.org/pav/2.0/version" : [ { "@value" : "v2.1.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf", "http://purl.org/pav/2.0/version" : [ { "@value" : "v2.1.0" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_publicationInfo" } ]