In undifferentiated cells, a significantly increased expression of NES and a nominally significant reduction in the expression of both SHANK1 and SHANK2 was observed in the compound heterozygous line 6A4 (Supplementary Fig. 4 A).
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SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
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