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Additional file 1 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

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Figshare2024-02-15 更新2026-04-08 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450781/1
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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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Romano, Corrado; Stratton, Robert; Lauridsen, Mathilde; Vitobello, Antonio; Zanni, Ginevra; Drummond-Borg, Margaret; Espineli, Edward J.; Bird, Lynne M.; Cereda, Anna; Torti, Erin; Hughes, Susan; Earl, Rachel K.; Simon, Marleen E. H.; Sorensen, Kristina; Levy, Paul; White, Kerry M.; Petit, Florence; Gillentine, Madelyn A.; Atwal, Paldeep; Syed, Sabeen; Basinger, Alice; Mirzaa, Ghayda M.; Vissers, Lisenka E. L. M.; Lindstrand, Anna; Bhat, Gifty; Elpeleg, Orly; Kooy, Frank; Kukolich, Mary; Wang, Tianyun; Abid, Farida; Thevenon, Julien; Nowakowski, Tomasz; Mckee, Shane; Xia, Kun; Wiesener, Antje; Mathieu, Sophie; Galesi, Ornella; Anselm, Irina; Bournez, Marie; Panjwani, Heena; Iascone, Maria; Berger, Itai; Palafoll, Irene Valenzuela; Ortega, Lucia; Pepper, Micah; Brasch-Andersen, Charlotte; Bernier, Raphael A.; Yan, Shuang; Sebastian, Jessica; Zweier, Christiane; Keren, Boris; Hoekzema, Kendra; Mignot, Cyril; Keller, Kory; Kvarnung, Malin; Feyma, Timothy; Thiffault, Isabelle; van Gassen,
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2021-04-20
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