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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20.
Genet Med. 2023.
PMID: 36549593
Free article.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E.
Goldberg Y, et al. Among authors: salmon lb.
Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 3.
Hum Mutat. 2021.
PMID: 33600035
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