Additional file 1 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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Additional file 1: Supplementary Tables S1-S12. Table S1. Cohorts utilized in current study. Table S2. Pathogenicity predictions by gnomAD and GeVIR for each hnRNP. Table S3. Significant p values of two-way ANOVA between cell type and transcripts per million (TPM) for each NDD HNRNP’s GTEx data. Table S4. P values and fold change for scRNA data from developing human cortex. Table S5. Significant p values of two-way ANOVA between cell type and fold expression for each HNRNP. Table S6. De novo enrichment and CLUMP analyses of current cohort. Table S7. Phenotypes among HNRNP-related disorders. Table S8. Uncorrected p values for pairwise Fisher’s exact tests for each phenotype occurring in 20% of an HNRNP group. Table S9. Uncorrected p values for phenotype correlations between each HNRNP-related disorder. Table S10. Variants and phenotypes for HNRNPs with < 3 probands. Table S11. Probands with copy number variants. Table S12. Shared HPO terms with similarly presenting genetic disorders.
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figshare
创建时间:
2021-04-20



