Extended Data Fig. 4: Overview of the clinical characteristics of patients with RNU4-2 LP/P variants. | Nature Genetics

Extended Data Fig. 4: Overview of the clinical characteristics of patients with RNU4-2 LP/P variants.

From: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Extended Data Fig. 4: Overview of the clinical characteristics of patients with RNU4-2 LP/P variants.

a, Aggregated clinical features of the whole cohort. b, Comparison of phenotypes related to RNU4-2 variants in the T-loop and stem III domains. The P values were calculated using Fisher’s exact tests (two-sided 2 × 2, 2 × 3 or 2 × 4 contingency tables) to compare 41 phenotypes between patients with n.64_65insT variants to those in the other three variant groups. Multiple comparisons were adjusted using the Bonferroni correction. Triangles, depletion (2 × 2 contingency tables); asterisks, significant difference (2 × 3 or 2 × 4 contingency tables). The percentage of patients with the feature, followed by the numerator (number of affected patients) and denominator (total assessed), are shown directly in the bars. For full details on all tests and patients numbers, please refer to Supplementary Table 8.

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