{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:43:51Z","timestamp":1761061431947,"version":"3.40.5"},"reference-count":34,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"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":[[2021,9]]},"DOI":"10.1002\/humu.24246","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T21:58:23Z","timestamp":1624399103000},"page":"1153-1164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Identification of seven exonic variants in the\n            <i>SLC4A1<\/i>\n            ,\n            <i>ATP6V1B1<\/i>\n            , and\n            <i>ATP6V0A4<\/i>\n            genes that alter RNA splicing by minigene assay"],"prefix":"10.1155","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4632-8736","authenticated-orcid":false,"given":"Ruixiao","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeqing","family":"Chen","sequence":"additional","affiliation":[{"name":"Academy for Engineering and Technology Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qijing","family":"Song","sequence":"additional","affiliation":[{"name":"Emergency Center, People's Hospital of Jimo District Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sai","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"},{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangzhong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Central Laboratory The Affiliated Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaomeng","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wencong","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Lang","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Bottillo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Molecular Medicine, San Camillo\u2010Forlanini Hospital Sapienza University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leping","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20280"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg775"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-020-2354-y"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1140"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.adgen.2018.09.002"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017080840"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00188"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.11.6380"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2019.09.026"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13687"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.11.6337"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-5074"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2005.02.047"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3742"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.12.017"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000488698"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13418"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/79208"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-62703-980-2_18"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005756"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-003-1112-6"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000099375.74789.AB"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes9010015"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.3109\/09687689709048178"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.100"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21173"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.585064"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2009.10.004"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005121277"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2018.0057"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0686-6"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep33920"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-018-1173-1"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02036-2"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24246","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24246","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24246","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:28Z","timestamp":1672332928000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,30]]},"references-count":34,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1002\/humu.24246"],"URL":"https:\/\/doi.org\/10.1002\/humu.24246","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"type":"print","value":"1059-7794"},{"type":"electronic","value":"1098-1004"}],"subject":[],"published":{"date-parts":[[2021,6,30]]},"assertion":[{"value":"2021-01-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}