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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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.
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2025-09-30



