[ { "@graph" : [ { "@id" : "http://identifiers.org/ensembl/ENSG00000083168", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@value" : "KAT6A" } ] }, { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#association", "@type" : [ "http://semanticscience.org/resource/SIO_000983" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ensembl/ENSG00000083168" }, { "@id" : "http://identifiers.org/omim/616268" } ] } ], "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#assertion" }, { "@graph" : [ { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#publicationInfo" } ] } ], "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#head" }, { "@graph" : [ { "@id" : "http://identifiers.org/pubmed/25728775", "http://purl.org/dc/terms/title" : [ { "@value" : "De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay." } ] }, { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#assertion", "http://semanticscience.org/resource/SIO_000253" : [ { "@id" : "http://identifiers.org/pubmed/25728775" } ] } ], "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#provenance" }, { "@graph" : [ { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2018-04-05T10:17:11.353+02:00" } ], "http://purl.org/dc/terms/rights" : [ { "@id" : "http://creativecommons.org/publicdomain/zero/1.0/" } ], "http://purl.org/pav/authoredBy" : [ { "@id" : "http://orcid.org/0000-0001-6048-1457" }, { "@id" : "http://orcid.org/0000-0002-7770-620X" } ], "http://purl.org/pav/createdBy" : [ { "@id" : "http://orcid.org/0000-0001-7542-0286" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#activity" } ] }, { "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#activity", "@type" : [ "http://www.w3.org/ns/prov#Activity" ], "http://www.w3.org/ns/prov#atLocation" : [ { "@id" : "https://www.wikidata.org/entity/Q1137652" } ] } ], "@id" : "http://purl.org/np/RAoUqo6kvL7fmP2UfJi5aJz45cSChc5X4jAFl0fdnJzsA#publicationInfo" } ]