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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ, Pastor VB, Lefkopoulos S, Sahoo SS, Busch H, Voss RK, Erlacher M, Lebrecht D, Szvetnik EA, Hirabayashi S, Pasaulienė R, Pedace L, Tartaglia M, Klemann C, Metzger P, Boerries M, Catala A, Hasle H, de Haas V, Kállay K, Masetti R, De Moerloose B, Dworzak M, Schmugge M, Smith O, Starý J, Mejstrikova E, Ussowicz M, Morris E, Singh P, Collin M, Derecka M, Göhring G, Flotho C, Strahm B, Locatelli F, Niemeyer CM, Trompouki E, Wlodarski MW; European Working Group of MDS in Childhood (EWOG-MDS). Kozyra EJ, et al. Among authors: szvetnik ea. Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18. Leukemia. 2020. PMID: 32555368 Free PMC article.