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Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

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Title: Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.
Authors: Lin JR, Miller D, Luong D, Nelson T, Crowley TB, Tran OT, Thiruvahindrapuram B, Hajianpour A, Campbell L, Busa T, Heine-Suñer D, García-Miñaúr S, Fernández L, Murphy KC, Murphy D, Hawula W, Angkustsiri K, Shashi V, Schoch K, Bearden CE, Tomita Mitchell A, Mitchell ME, Carmel M, Weizman A, Michaelovsky E, Gothelf D, van den Bree MBM, Owen MJ, Vorstman JAS, Boot E, Vingerhoets C, van Amelsvoort T, Swillen A, Breckpot J, Vermeesch JR, Devriendt K, Schneider M, Eliez S, Digilio MC, Unolt M, Putotto C, Versacci P, Marino B, Pontillo M, Armando M, Vicari S, Repetto GM, Kates WR, Shprintzen RJ, Gur RE, Zackai EH, Goldmuntz E, Wang T, Raj S, Emanuel BS, McDonald-McGinn DM, Scherer SC, Bassett AS, Zhang ZD, Morrow BE
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 20. Date of Electronic Publication: 2026 May 20.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 41891037
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41891037
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        Value: 10.64898/2026.02.23.26346918
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              Text: 2026 May 20
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