{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:39Z","timestamp":1786977999865,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T00:00:00Z","timestamp":1644192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T00:00:00Z","timestamp":1644192000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1002\/humu.24337","type":"journal-article","created":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T21:04:37Z","timestamp":1643835877000},"page":"471-476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive"],"prefix":"10.1155","volume":"43","author":[{"given":"Julia M.","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of California, Irvine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel V.","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of California, Irvine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Kritzer","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3476-9056","authenticated-orcid":false,"given":"Jefferson Y.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of California, Irvine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225191"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.23.11371"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.6.1779"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-00886-z"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.06706-11"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.2.512"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/24.21.4289"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.03.058"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.03.002"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00105.2009"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048404"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.52.37491"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.12350"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1019209108"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1037"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0550"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.26.16490"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4781(00)00276-1"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M405031200"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2010.02.029"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00110-14"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-39536-0"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M700159200"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.10.003"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500660102"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1289\/ehp.1002304"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24337","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24337","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:55:59Z","timestamp":1672314959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,7]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1002\/humu.24337"],"URL":"https:\/\/doi.org\/10.1002\/humu.24337","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,7]]},"assertion":[{"value":"2021-09-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}