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Additional file 2 of Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

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Figshare2025-09-30 更新2026-04-08 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Functional_characterization_of_the_MED12_p_Arg1138Trp_variant_in_females_implications_for_neural_development_and_disease_mechanism/30240448
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资源简介:
Supplementary Material 2. Supplementary table 1 Geneticist clinician reported HPO terms for Patient 1. Supplementary table 2 MED12 Patient 1 HPO terms and MED12 related disorders. Supplementary table 3 Differentially expressed genes NPCs compared to iPSCs. Supplementary table 4 GSEA GO-Biological Processes, Neural differentiation of patient-derived iPSCs. Supplementary table 5 Differentially expressed genes in comparison of variant to WT NPCs. Supplementary Table 6. GSEA GO_BP in difference of NPCs. Supplementary Table 7. GSEA GO_CC in difference of NPCs.
提供机构:
Forbes, Catherine A.; Kuzminski, Emma; Hedges, Mitchell; Harrison, Saraya; Baynam, Gareth; Poulton, Cathryn; Lassmann, Timo; Fear, Vanessa S.; Loughman, Lily; Shaw, Nicole C.; Ward, Michelle; Farley, Kathryn O.; Chen, Kevin
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2025-09-30
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