{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:30:10Z","timestamp":1790400610664,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T00:00:00Z","timestamp":1621382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T00:00:00Z","timestamp":1621382400000},"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":[[2021,7]]},"DOI":"10.1002\/humu.24215","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T06:12:59Z","timestamp":1620108779000},"page":"827-834","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Broadening the phenotypic spectrum and physiological insights related to<i>EIF2S3<\/i>variants"],"prefix":"10.1155","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4783-8674","authenticated-orcid":false,"given":"Stephanie","family":"Moortgat","sequence":"first","affiliation":[{"name":"Center de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3445-3764","authenticated-orcid":false,"given":"Isabelle","family":"Manfroid","sequence":"additional","affiliation":[{"name":"Laboratory of Zebrafish Development and Disease Models (ZDDM), GIGA\u2010Research, Tour B34 \u00a0Universit\u00e9 de Li\u00e8ge Li\u00e8ge (Sart\u2010Tilman) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Pendeville","sequence":"additional","affiliation":[{"name":"GIGA\u2010Research, Zebrafish Platform, Tour B34 Universit\u00e9 de Li\u00e8ge Li\u00e8ge (Sart\u2010Tilman) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Freeman","sequence":"additional","affiliation":[{"name":"GIGA\u2010Research, Imaging and Flow Cytometry Platform, Tour B34 Universit\u00e9 de Li\u00e8ge Li\u00e8ge (Sart\u2010Tilman) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordane","family":"Bourdouxhe","sequence":"additional","affiliation":[{"name":"Laboratory of Zebrafish Development and Disease Models (ZDDM), GIGA\u2010Research, Tour B34 \u00a0Universit\u00e9 de Li\u00e8ge Li\u00e8ge (Sart\u2010Tilman) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1098-9452","authenticated-orcid":false,"given":"Val\u00e9rie","family":"Benoit","sequence":"additional","affiliation":[{"name":"Center de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7046-2508","authenticated-orcid":false,"given":"Ahmad","family":"Merhi","sequence":"additional","affiliation":[{"name":"Laboratory of Translational Oncology Institut de Pathologie et de G\u00e9n\u00e9tique Gosselies Belgium"},{"name":"IPG BioBank Institut de Pathologie et de G\u00e9n\u00e9tique 6041 Charleroi Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7098-6520","authenticated-orcid":false,"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD, Genetics of Developmental disorders Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9 Dijon France"},{"name":"Unit\u00e9 Fonctionnelle \u00ab Innovation diagnostique dans les maladies rares \u00bb, laboratoire de g\u00e9n\u00e9tique mol\u00e9culaire, plate\u2010forme de biologie hospitalo\u2010universitaire CHU Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-444X","authenticated-orcid":false,"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Inserm UMR 1231 GAD, Genetics of Developmental disorders Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9 Dijon France"},{"name":"Center de G\u00e9n\u00e9tique et Center de R\u00e9f\u00e9rence Maladies Rares \u00ab Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est \u00bb, H\u00f4pital d'Enfants CHU Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7170-8186","authenticated-orcid":false,"given":"Isabelle","family":"Maystadt","sequence":"additional","affiliation":[{"name":"Center de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Gosselies Belgium"},{"name":"Facult\u00e9 de M\u00e9decine, URPhyM UNamur Namur Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.0103"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.01.025"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176925.114"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2012.09.005"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11091"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2019.03.013"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygcen.2010.10.010"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13831"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215993"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37792"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9898"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz004"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-07953-w"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23170"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.33549\/physiolres.933689"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200180"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.33549\/physiolres.934498"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.059097"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.133.5.1053"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1213"},{"issue":"2","key":"e_1_2_5_22_1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1158\/1535-7163.187.3.2","article-title":"Staurosporine induces apoptosis of melanoma by both caspase\u2010dependent and \u2010independent apoptotic pathways","volume":"3","author":"Zhang X. D.","year":"2004","journal-title":"Molecular Cancer Therapeutics"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24215","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24215","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:21Z","timestamp":1672332921000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,19]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/humu.24215"],"URL":"https:\/\/doi.org\/10.1002\/humu.24215","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,19]]},"assertion":[{"value":"2020-08-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}