PAX2 and congenital anomaly of kidney and urinary tract: To explore genotype-phenotype correlations within the group of patients with CAKUT carrying a PAX2 LOF variant compiled here, we compared the kidney phenotype, albuminuria levels, and age at kidney failure of 39 patients with the common c.76dupG variant located in exon 2 shown to escape NMD, and 33 patients with a nonsense or frameshift (stop/fs) variant located in exon 3 to 7 predicted or shown to elicit NMD (Figure 1b).