{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T07:02:57Z","timestamp":1790146977416,"version":"4.0.1"},"reference-count":5,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2027,1,1]],"date-time":"2027-01-01T00:00:00Z","timestamp":1798761600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2027,1,1]],"date-time":"2027-01-01T00:00:00Z","timestamp":1798761600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703901"],"award-info":[{"award-number":["2022YFC2703901"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703102"],"award-info":[{"award-number":["2022YFC2703102"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005150","name":"Chinese Academy of Medical Sciences","doi-asserted-by":"publisher","award":["2019PT320025"],"award-info":[{"award-number":["2019PT320025"]}],"id":[{"id":"10.13039\/501100005150","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82572698"],"award-info":[{"award-number":["82572698"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82172382"],"award-info":[{"award-number":["82172382"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012232","name":"National Key Clinical Specialty Discipline Construction Program of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012232","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019018","name":"Chinese Academy of Medical Sciences Initiative for Innovative Medicine","doi-asserted-by":"publisher","award":["2022-I2M-2-001"],"award-info":[{"award-number":["2022-I2M-2-001"]}],"id":[{"id":"10.13039\/501100019018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019018","name":"Chinese Academy of Medical Sciences Initiative for Innovative Medicine","doi-asserted-by":"publisher","award":["2021-I2M-1-052"],"award-info":[{"award-number":["2021-I2M-1-052"]}],"id":[{"id":"10.13039\/501100019018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019018","name":"Chinese Academy of Medical Sciences Initiative for Innovative Medicine","doi-asserted-by":"publisher","award":["2021-I2M-1-051"],"award-info":[{"award-number":["2021-I2M-1-051"]}],"id":[{"id":"10.13039\/501100019018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019018","name":"Chinese Academy of Medical Sciences Initiative for Innovative Medicine","doi-asserted-by":"publisher","award":["T-A-003"],"award-info":[{"award-number":["T-A-003"]}],"id":[{"id":"10.13039\/501100019018","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genes & Diseases"],"published-print":{"date-parts":[[2027,1]]},"DOI":"10.1016\/j.gendis.2026.102093","type":"journal-article","created":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T16:05:37Z","timestamp":1771085137000},"page":"102093","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotypes"],"prefix":"10.1016","volume":"14","author":[{"given":"Xi","family":"Cheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixuan","family":"Gai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqing","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianguo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.gendis.2026.102093_bib1","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"issue":"11","key":"10.1016\/j.gendis.2026.102093_bib2","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1038\/ejhg.2014.20","article-title":"Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer","volume":"22","author":"Ibrahim","year":"2014","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"10.1016\/j.gendis.2026.102093_bib3","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/jmg.2010.078964","article-title":"Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP","volume":"47","author":"Lagarde","year":"2010","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.gendis.2026.102093_bib4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000816","article-title":"Genetic dissection of differential signaling threshold requirements for the Wnt\/beta-catenin pathway in vivo","volume":"6","author":"Buchert","year":"2010","journal-title":"PLoS Genet"},{"issue":"5","key":"10.1016\/j.gendis.2026.102093_bib5","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["Genes & Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304226000656?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304226000656?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:26:23Z","timestamp":1790144783000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352304226000656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2027,1]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2027,1]]}},"alternative-id":["S2352304226000656"],"URL":"https:\/\/doi.org\/10.1016\/j.gendis.2026.102093","relation":{},"ISSN":["2352-3042"],"issn-type":[{"value":"2352-3042","type":"print"}],"subject":[],"published":{"date-parts":[[2027,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotypes","name":"articletitle","label":"Article Title"},{"value":"Genes & Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gendis.2026.102093","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd.","name":"copyright","label":"Copyright"}],"article-number":"102093"}}