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Eur J Hum Genet 2008; 16: 89-96.","journal-title":"Eur J Hum Genet"}],"container-title":["American Journal of Translational Research"],"original-title":[],"link":[{"URL":"https:\/\/e-century.us\/files\/ajtr\/17\/3\/ajtr0161391.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T01:50:55Z","timestamp":1766022655000},"score":1,"resource":{"primary":{"URL":"https:\/\/e-century.us\/files\/ajtr\/17\/3\/ajtr0161391.pdf"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":54,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.62347\/jdlc8070","relation":{},"ISSN":["1943-8141"],"issn-type":[{"value":"1943-8141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]}}}