PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

Clin Genet · 2025 · PMC12580486 · PMID 40542664

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highly significantno p-value reported

First, we quantified the total level of PI3P in the cell using a dedicated ELISA assay that showed a highly significant decreased level of PI3P in the patient skin fibroblasts compared to controls (Figure 3A ).

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