{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T04:46:28Z","timestamp":1788410788334,"version":"build-2803163510"},"reference-count":72,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"95","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Immunol."],"published-print":{"date-parts":[[2024,5,24]]},"abstract":"<jats:p>\n            Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 11 affected patients across four consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain\u2013containing 3 (\n            <jats:italic>NUDCD3<\/jats:italic>\n            )\n            <jats:italic>.<\/jats:italic>\n            Two infants had severe combined immunodeficiency with the complete absence of T and B cells (T\n            <jats:sup>\u2009-<\/jats:sup>\n            B\n            <jats:sup>-<\/jats:sup>\n            SCID), whereas nine showed classical features of Omenn syndrome (OS). Restricted antigen receptor gene usage by residual T lymphocytes suggested impaired V(D)J recombination. Patient cells showed reduced expression of NUDCD3 protein and diminished ability to support RAG-mediated recombination in vitro, which was associated with pathologic sequestration of RAG1 in the nucleoli. Although impaired V(D)J recombination in a mouse model bearing the homologous variant led to milder immunologic abnormalities, NUDCD3 is absolutely required for healthy T and B cell development in humans.\n          <\/jats:p>","DOI":"10.1126\/sciimmunol.ade5705","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T17:58:15Z","timestamp":1716573495000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":6,"title":["<i>NUDCD3<\/i>\n            deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome"],"prefix":"10.1126","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2887-2751","authenticated-orcid":true,"given":"Rui","family":"Chen","sequence":"first","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3566-5873","authenticated-orcid":true,"given":"Elena","family":"Lukianova","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1196-6196","authenticated-orcid":true,"given":"Ina Schim","family":"van der Loeff","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."},{"name":"Great North Children\u2019s Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, NE1 4LP Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0710-9266","authenticated-orcid":true,"given":"Jarmila Stremenova","family":"Spegarova","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D.P.","family":"Willet","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8811-6996","authenticated-orcid":true,"given":"Kieran D.","family":"James","sequence":"additional","affiliation":[{"name":"Institute of Immunology and Immunotherapy, University of Birmingham. B15 2TT Birmingham, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1799-9899","authenticated-orcid":true,"given":"Edward J.","family":"Ryder","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5288-3322","authenticated-orcid":true,"given":"Helen","family":"Griffin","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"IJspeert","sequence":"additional","affiliation":[{"name":"Department of Immunology, Erasmus University Medical Center, Rotterdam 3000 CA, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6525-7603","authenticated-orcid":true,"given":"Akshada","family":"Gajbhiye","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Lamoliatte","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7682-0190","authenticated-orcid":true,"given":"Jose L.","family":"Marin-Rubio","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Woodbine","sequence":"additional","affiliation":[{"name":"Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Brighton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrique","family":"Lemos","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Swan","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1591-4075","authenticated-orcid":true,"given":"Valeria","family":"Pintar","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Sayes","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5801-6190","authenticated-orcid":true,"given":"Elias R.","family":"Ruiz-Morales","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Eastham","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5904-9074","authenticated-orcid":true,"given":"David","family":"Dixon","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5946-821X","authenticated-orcid":true,"given":"Martin","family":"Prete","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8870-0316","authenticated-orcid":true,"given":"Elena","family":"Prigmore","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny","family":"Jeggo","sequence":"additional","affiliation":[{"name":"Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Brighton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8705-9827","authenticated-orcid":true,"given":"Joan","family":"Boyes","sequence":"additional","affiliation":[{"name":"Faculty of Biological Sciences, University of Leeds, LS2 9JT Leeds, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9553-6160","authenticated-orcid":true,"given":"Andrew","family":"Mellor","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1996-944X","authenticated-orcid":true,"given":"Lei","family":"Huang","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1510-3104","authenticated-orcid":true,"given":"Mirjam","family":"van der Burg","sequence":"additional","affiliation":[{"name":"Department of Immunology, Erasmus University Medical Center, Rotterdam 3000 CA, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8513-9682","authenticated-orcid":true,"given":"Karin R.","family":"Engelhardt","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9168-0878","authenticated-orcid":true,"given":"Asbj\u00f8rg","family":"Stray-Pedersen","sequence":"additional","affiliation":[{"name":"Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Christian","family":"Erichsen","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Adolescent Medicine, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo 0424, Norway."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6218-1324","authenticated-orcid":true,"given":"Andrew R.","family":"Gennery","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."},{"name":"Great North Children\u2019s Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, NE1 4LP Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5732-700X","authenticated-orcid":true,"given":"Matthias","family":"Trost","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9490-0306","authenticated-orcid":true,"given":"David J.","family":"Adams","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2917-4085","authenticated-orcid":true,"given":"Graham","family":"Anderson","sequence":"additional","affiliation":[{"name":"Institute of Immunology and Immunotherapy, University of Birmingham. B15 2TT Birmingham, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1406-7607","authenticated-orcid":true,"given":"Anna","family":"Lorenc","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6955-9529","authenticated-orcid":true,"given":"Gosia","family":"Trynka","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK."},{"name":"Open Targets, Wellcome Genome Campus, CB10 1SA Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7954-3267","authenticated-orcid":true,"given":"Sophie","family":"Hambleton","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK."},{"name":"Great North Children\u2019s Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, NE1 4LP Newcastle upon Tyne, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.61"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01289-3"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.09.037"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/imr.12729"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/ldv020"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41577-021-00628-6"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ai.2015.07.002"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2011.02.003"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2005.04.014"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.05.042"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1793-z"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.012"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11427-016-5029-2"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2020885118"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.05.039"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2021.12.031"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-018-2957-y"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0602916103"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2009.118"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.abo0510"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aay3224"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.06.010"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.05.028"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.20.9529"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciimmunol.aah6109"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.11.018"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.6.688"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1993.tb05887.x"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.4.1001"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI30513"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI30928"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-12-820985"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-092910-154008"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2005.11.012"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-06-096487"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.25.022106.141711"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1920021117"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/1074-7613(95)90061-6"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2021.109824"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2010.02.010"},{"key":"e_1_3_2_45_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaw9157"},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jmedchem.2c00671"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1511"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1052"},{"key":"e_1_3_2_49_2","unstructured":"UniProt search results; www.uniprot.org\/uniprotkb?query=Human&facets=reviewed%3Atrue%2C model_organism%3A9606."},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv007"},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.200737624"},{"key":"e_1_3_2_52_2","unstructured":"D. Dixon \u201cEffects of STAT3 gain of function on myeloid cells in human peripheral blood mononuclear cells \u201d thesis Newcastle University Newcastle upon Tyne (2020)."},{"key":"e_1_3_2_53_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20190344"},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"e_1_3_2_55_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.05.031"},{"key":"e_1_3_2_56_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cels.2019.03.003"},{"key":"e_1_3_2_57_2","unstructured":"A. Gayoso J. Shor JonathanShor\/DoubletDetection: Doubletdetection v3.0 (Zenodo 2020); http:\/\/doi.org\/10.5281\/zenodo.4359992."},{"key":"e_1_3_2_58_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cels.2020.05.010"},{"key":"e_1_3_2_59_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab358"},{"key":"e_1_3_2_60_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-019-1865-2"},{"key":"e_1_3_2_61_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aad0501"},{"key":"e_1_3_2_62_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41590-019-0549-0"},{"key":"e_1_3_2_63_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.20335"},{"key":"e_1_3_2_64_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab1038"},{"key":"e_1_3_2_65_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03205-y"},{"key":"e_1_3_2_66_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2002-3-7-research0034"},{"key":"e_1_3_2_67_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2015.05.004"},{"key":"e_1_3_2_68_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni.3419"},{"key":"e_1_3_2_69_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_3_2_70_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3739"},{"key":"e_1_3_2_71_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_3_2_72_2","first-page":"1030","article-title":"MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains","volume":"40","author":"Wiel L.","year":"2019","unstructured":"L. Wiel, C. Baakman, D. Gilissen, J. A. Veltman, G. Vriend, C. Gilissen, MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. Hum. Mutat. 40, 1030\u20131038 (2019).","journal-title":"Hum. Mutat."},{"key":"e_1_3_2_73_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"}],"container-title":["Science Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/sciimmunol.ade5705","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T17:58:24Z","timestamp":1716573504000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/sciimmunol.ade5705"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,24]]},"references-count":72,"journal-issue":{"issue":"95","published-print":{"date-parts":[[2024,5,24]]}},"alternative-id":["10.1126\/sciimmunol.ade5705"],"URL":"https:\/\/doi.org\/10.1126\/sciimmunol.ade5705","relation":{},"ISSN":["2470-9468"],"issn-type":[{"value":"2470-9468","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,24]]},"assertion":[{"value":"2022-08-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"eade5705"}}