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Fig. 2 Photographs of probands with de novo variants in EIF3B or EIF3A (A–C) Clinical images of proband #4, with a canonical acceptor splice site variant in EIF3B; (D–F) proband #9 with a loss-of-function variant in EIF3B; (G–H) proband #15, with a loss-of-function variant EIF3A; and (I and J) proband #18, with a loss-of-function variant in EIF3A.
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Full text @ Am. J. Hum. Genet.