Fig. 7

Location of the different genetic alterations in the EIF2AK3 gene. Black boxes present the exons while dashed lines the introns of the gene. Vertical black lines on top of the gene are nonsense and red lines below the gene are missense variants (a). Green lines below the gene, blue and brown lines above the gene show the position of small deletions, insertions and indels, respectively. Yellow lines represent splice site alterations. The variant described in this study is presented in purple (b)