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Ratio of firefly luciferase signal (under KNSTRN promoter) over Renilla luciferase signal (under constitutive TK promoter) as a measurement of wild-type and mutant KNSTRN promoter activity in reporter assays performed in HEK293T cells. Combined data of three independent experiments. Error bars indicate standard deviations. Statistics calculated by ordinary one-way ANOVA:∗∗∗∗p< 0.0001.
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