Fig. 3

Fig. 3 In vivo complementation assay indicates that variants identified in affected individuals are pathogenic.

A Representative bright field images of uninjected control (UC), morphants (MO), and MO plus mRNA-injected larvae at 3 dpf. B In vivo complementation data show that variants identified in affected individuals are pathogenic. p.T130R, rs6478854 is a presumed benign variant used as a negative control. Scale bar, 300 µM. Statistical differences were calculated using non-parametric ANOVA with Kruskal-Wallis test followed by Dunn’s multiple comparisons test by controlling False Discovery Rate (original FDR method of Benjamini and Hochberg); ( + ) and (-) indicate significant and non-significant differences, respectively. Median values are shown with pink horizontal lines. See Supplementary Table S2 for exact adjusted q-values and numbers of larvae. Source data are provided as a Source Data file.