{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T12:43:56Z","timestamp":1784724236077,"version":"3.55.0"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1093\/brain\/aww135","type":"journal-article","created":{"date-parts":[[2016,6,26]],"date-time":"2016-06-26T05:15:37Z","timestamp":1466918137000},"page":"e52-e52","source":"Crossref","is-referenced-by-count":20,"title":["Aberrant splicing induced by the most common<i>EPG5<\/i>mutation in an individual with Vici syndrome"],"prefix":"10.1093","volume":"139","author":[{"given":"Megan S.","family":"Kane","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne A.","family":"Wolfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul R.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yupeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathi C.","family":"Huddleston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Vockley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John E.","family":"Niederhuber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin D.","family":"Solomon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,6,24]]},"reference":[{"key":"2016082400371376000_139.9.e52.1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"2016082400371376000_139.9.e52.2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.111"},{"key":"2016082400371376000_139.9.e52.3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0094554"},{"key":"2016082400371376000_139.9.e52.4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0399-x"},{"key":"2016082400371376000_139.9.e52.5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv393"},{"key":"2016082400371376000_139.9.e52.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2497"},{"key":"2016082400371376000_139.9.e52.7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"2016082400371376000_139.9.e52.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01311.x"},{"key":"2016082400371376000_139.9.e52.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80542-5"},{"key":"2016082400371376000_139.9.e52.10","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1566807"},{"key":"2016082400371376000_139.9.e52.11","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"2016082400371376000_139.9.e52.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"2016082400371376000_139.9.e52.13","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"2016082400371376000_139.9.e52.14","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"2016082400371376000_139.9.e52.15","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl277"},{"key":"2016082400371376000_139.9.e52.16","doi-asserted-by":"publisher","DOI":"10.1002\/path.2649"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/139\/9\/e52\/17944483\/aww135.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T23:53:22Z","timestamp":1503532402000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/aww135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,24]]},"references-count":16,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2016,8,24]]},"published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1093\/brain\/aww135"],"URL":"https:\/\/doi.org\/10.1093\/brain\/aww135","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,24]]}}}