Fig. 4: Distribution of severe patient variants in six genes.
From: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Protein diagrams are shown for HNRNPU (a) KCNQ3 (b) ZBTB18 (c) TCF12 (d) SPEN (e), and LEO1 (f) with the same display metrics that applied in Fig. 3. Validated LGD (red) and MIS30 (blue) variants are plotted. Variants listed above the protein model are new to this study, while the ones below were published previously. Paternal (black arrow) and maternal (green arrow) inheritance are shown if determined. A yellow lightning bolt denotes a de novo mutation.
