Fig. 3
From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Pathogenicity assessment of variation in hnRNPs. pLI and Z-scores were obtained from gnomAD. pLI scores are significantly higher among NDD hnRNPs (n = 12) compared to non-NDD hnRNPs (n = 20), suggesting LGD variants are more likely to be damaging. Z-scores trend towards being significantly higher for NDD hnRNPs, suggesting severe missense variants are likely to be damaging. T-test with Welch’s correction. *p < 0.05. pLI: loss-of-function intolerance