Fig. 1: Schematic view of the distribution of pathogenic variants in NR4A2.
From: De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
(a) Transcript description and locations (marked by circles) of the variants found in NR4A2 gene. (b) Predicted effects (blue dots) of the pathogenic variants on NR4A2 protein sequence. The c.327dup,p.S110Vfs*2 variant was published previously.7.
