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. 2024 Jul 29;44(7):167. doi: 10.1007/s10875-024-01758-x

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© The Author(s) 2024, corrected publication 2024

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Fig. 3 — Evaluation of comprehensive amino acid substitutions at position 555. (A) Immunoblotting of extracts from human embryonic kidney (HEK) 293T cells transfected with empty vector (EV), E47 wild-type (WT), or E555 variants. (B) Luciferase reporter assay to mimic the homozygous state in HEK293T cells transfected with EV, WT, or E555 variants. (C) Luciferase reporter assay to mimic the heterozygous state in HEK293T cells co-transfected with WT and E555 variants. Statistical analysis was performed using one-way analysis of variance (ANOVA) with Dunnett’s post hoc test compared to WT 3.0 ng (*p < 0.05, **p < 0.01, ***p < 0.0001)