FIGURE 1.
TAF1 functional motifs and the variants identified in the study cohort. Solid red circles in the top indicate new variants identified in this study, and the solid orange circle indicates a previously reported variant that is also present in the current study cohort. Solid blue circles listed below indicate previously reported variants. Boxed parts indicate structural TAF1 domains of known functions (RefSeq: NM_004606.4). TAF1, TATA-box binding protein associated factor 1