Figure 5.
Summary of in vitro functional characterization of ETV6 variants. A variety of in vitro assays were performed to comprehensively characterize the impacts of germline ETV6 variants. Dot colors represent different assays; blanks denote that the variant was not tested in the assay. The top panel includes “damaging” variants as determined by impairment of transcriptional repression in luciferase reporter assays. The bottom panel includes WT-like variants, which showed no impairment of transcriptional repression.

Summary of in vitro functional characterization of ETV6 variants. A variety of in vitro assays were performed to comprehensively characterize the impacts of germline ETV6 variants. Dot colors represent different assays; blanks denote that the variant was not tested in the assay. The top panel includes “damaging” variants as determined by impairment of transcriptional repression in luciferase reporter assays. The bottom panel includes WT-like variants, which showed no impairment of transcriptional repression.

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