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2. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype. Balak C; Belnap N; Ramsey K; Joss S; Devriendt K; Naymik M; Jepsen W; Siniard AL; Szelinger S; Parker ME; Richholt R; Izatt T; LaFleur M; Terraf P; Llaci L; De Both M; Piras IS; Rangasamy S; Schrauwen I; Craig DW; Huentelman M; Narayanan V Am J Med Genet A; 2018 Jul; 176(7):1549-1558. PubMed ID: 30160831 [TBL] [Abstract][Full Text] [Related]
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