FigureĀ 6.
Functional consequences of rare ERG variants. Rare ERG variants from similar phenotypic groups, including BMF and/or HM and lymphedema, among population variants (gnomAD >200),38 a germ line thrombocytopenic mouse variant,1 a paralogous ETV6 pathogenic variant (thrombocytopenia),49 and Catalogue Of Somatic Mutations In Cancer mutation (somatic)41 are mapped onto the ERG protein (isoform, NP_891548.1; transcript, NM_182918.4). Functional characterization of each variant via transactivation, DNA binding, subcellular localization, FLC myeloid differentiation, FLC cytokine independence, and leukemogenesis assays are displayed.

Functional consequences of rare ERG variants. Rare ERG variants from similar phenotypic groups, including BMF and/or HM and lymphedema, among population variants (gnomAD >200),38 a germ line thrombocytopenic mouse variant,1 a paralogous ETV6 pathogenic variant (thrombocytopenia),49 and Catalogue Of Somatic Mutations In Cancer mutation (somatic)41 are mapped onto the ERG protein (isoform, NP_891548.1; transcript, NM_182918.4). Functional characterization of each variant via transactivation, DNA binding, subcellular localization, FLC myeloid differentiation, FLC cytokine independence, and leukemogenesis assays are displayed.

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