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. 2024 Sep 30;15:42. doi: 10.1186/s13229-024-00625-1

Fig. 4.

Fig. 4

Disease associated gene sets that are significantly dysregulated in SETBP1 variant NPCs compared to WT NPCs. Selected gene set terms that are significantly dysregulated in SETBP1 PATH2, SETBP1 PATH3 and SETBP1 VUS2 NPCs for DisGeNET (A) and Disease Ontology (B) databases. Full list of significant terms for each SETBP1 SNV is available in the supplementary data