{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:45:02Z","timestamp":1786977902176,"version":"build-2736575974"},"reference-count":66,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T00:00:00Z","timestamp":1665187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T00:00:00Z","timestamp":1665187200000},"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":[[2022,12]]},"DOI":"10.1002\/humu.24477","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T16:03:08Z","timestamp":1663948988000},"page":"1673-1705","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus\u2010specific patient database"],"prefix":"10.1155","volume":"43","author":[{"given":"Stephanie A.","family":"Mercurio","sequence":"first","affiliation":[{"name":"Department of Data Science, Curation Division Genomenon Inc. Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren M.","family":"Chunn","sequence":"additional","affiliation":[{"name":"Department of Scientific Communication and Strategy Genomenon Inc. Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4041-530X","authenticated-orcid":false,"given":"Gus","family":"Khursigara","sequence":"additional","affiliation":[{"name":"Department of Medical Affairs Inozyme Pharma Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Nester","sequence":"additional","affiliation":[{"name":"Department of Physician and Patient Strategies Inozyme Pharma Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Wray","sequence":"additional","affiliation":[{"name":"Department of Medical Affairs Inozyme Pharma Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Botschen","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Muenster University Children's Hospital M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Kiel","sequence":"additional","affiliation":[{"name":"Department of Scientific Communication and Strategy Genomenon Inc. Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Muenster University Children's Hospital M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,8]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/1708538114533962"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10006"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.015693"},{"issue":"5","key":"e_1_2_13_6_1","first-page":"312","article-title":"The SWISS\u2010PROT protein sequence database: Its relevance to human molecular medical research","volume":"75","author":"Bairoch A.","year":"1997","journal-title":"Journal of Molecular Medicine"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.24058"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.12.10.3004"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354661"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4315"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.577152"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.hyp.31.1.516"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.007"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4487"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-00983-0"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4254"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4418"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/195911a0"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20021943"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0925-4439(03)00058-9"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0152-5"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2012.09.001"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.6.994"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4550"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1208017109"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3938"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.213"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017101148"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.010"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.370"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.012765"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/JID.2015.377"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.006"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032177"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115656"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40949-018-0022-1"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050993"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.221689"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.020"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-018-0163-5"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3911"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/956"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1166-z"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.051094"},{"key":"e_1_2_13_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.482"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.10.035"},{"key":"e_1_2_13_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2017.02.009"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.02.008"},{"key":"e_1_2_13_52_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.759811"},{"key":"e_1_2_13_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_54_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.108.797704"},{"key":"e_1_2_13_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1221"},{"key":"e_1_2_13_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2011.06.029"},{"key":"e_1_2_13_57_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024738"},{"key":"e_1_2_13_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"e_1_2_13_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23057"},{"key":"e_1_2_13_60_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050742"},{"key":"e_1_2_13_61_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02410-w"},{"key":"e_1_2_13_62_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517744773"},{"key":"e_1_2_13_63_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0168159"},{"key":"e_1_2_13_64_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00320.2003"},{"key":"e_1_2_13_65_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.4538"},{"key":"e_1_2_13_66_1","volume-title":"GeneReviews\u00ae","author":"Ziegler S. G.","year":"1993"},{"key":"e_1_2_13_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4640"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24477","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24477","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24477","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:55:38Z","timestamp":1672314938000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,8]]},"references-count":66,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/humu.24477"],"URL":"https:\/\/doi.org\/10.1002\/humu.24477","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,8]]},"assertion":[{"value":"2022-03-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}