{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:21:00Z","timestamp":1762161660735,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["ECR\/2016\/001475"],"award-info":[{"award-number":["ECR\/2016\/001475"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/13\/58\/2015\/NCD\u2010III"],"award-info":[{"award-number":["5\/13\/58\/2015\/NCD\u2010III"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1002\/humu.24235","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T10:53:13Z","timestamp":1622458393000},"page":"1005-1014","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Biallelic deep intronic variant c.5457+81T&gt;A in\n            <i>TRIP11<\/i>\n            causes loss of function and results in achondrogenesis 1A"],"prefix":"10.1155","volume":"42","author":[{"given":"Priyanka","family":"Upadhyai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Periyasamy","family":"Radhakrishnan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vishal S.","family":"Guleria","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neethukrishna","family":"Kausthubham","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalini S.","family":"Nayak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"issue":"1","key":"e_1_2_9_2_1","article-title":"The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects","volume":"145","author":"Bird I. M.","year":"2018","journal-title":"Development"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.21117"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1876"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01550.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3588"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7007-7-56"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000315"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E06-02-0133"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/11976"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12079-013-0201-y"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01477.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2019.1628541"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31336"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw010"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.145.1.83"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2018.1483807"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61460"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4592"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.4161\/auto.36182"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12639"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2019.00153"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201411070"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20584-4"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.166710"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.07.012"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E14-10-1450"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900158"},{"issue":"1","key":"e_1_2_9_29_1","first-page":"45","article-title":"Fatal neonatal dwarfism","volume":"23","author":"Stuart Houston C.","year":"1972","journal-title":"Journal of the Canadian Association of Radiologists"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1224947"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.121150"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.124701"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1256898"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.043448"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24235","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24235","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:22Z","timestamp":1672332922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":33,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/humu.24235"],"URL":"https:\/\/doi.org\/10.1002\/humu.24235","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"type":"print","value":"1059-7794"},{"type":"electronic","value":"1098-1004"}],"subject":[],"published":{"date-parts":[[2021,6,8]]},"assertion":[{"value":"2021-03-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}