[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN3169801374a58b3e577d65083f761bbf", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/695" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0221026" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[These studies document the considerable variability in the Btk mutations causing XLA and they demonstrate an approach that will be useful for carrier detection as well as mutation identification.]. 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_curated" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/7849697" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/UNIPROT" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000218" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/UNIPROT", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2017-01-25" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated", "@type" : [ "http://purl.obolibrary.org/obo/ECO_0000205" ], "http://www.w3.org/2000/01/rdf-schema#comment" : [ { "@language" : "en", "@value" : "Gene-disease associations manually curated." } ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@language" : "en", "@value" : "DisGeNET evidence - CURATED" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:11:08+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/NP148060.RA4IsWsOOBFi0L_My4MhkBEojhTsB2LpP-HpwC9Ro07Bo#publicationInfo" } ]