Fig. 3
From: Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Functional characterization of SVs affecting PAX6 expression. Boxplots represent the relative PAX6 mRNA expression in a lymphocyte cell line derived from both SV-carrying probands compared to three healthy controls (wt-PAX6) and three patients carrying PAX6-associated aniridia pathogenic variants from our cohort. RPLP0 gene was used for setting relative expression. The experiment was performed in triplicate. Boxplots indicate median values and range of whiskers variation. FC: Fold-change indicating the normalized ratio of PAX6/RPLP0 expression levels. Statistical analysis was performed using Kruskal–Wallis test with Dunn's test for multiple comparisons of normalized PAX6 expression ratios and Bonferroni for multiple testing corrections. Significance was defined as **p.adj < 0.01, ****p.adj < 0.0001, and p.adj > 0.05 (not significant, ns)