Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy

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CONCLUSION: Meta-predictors may effectively predict YWHAG missense variant pathogenicity, and YWHAG spatiotemporal expression aligns with its DEE pathogenic role. These computational tools may provide reliable support for the pathogenicity assessment of YWHAG variants in clinical genetic diagnosis.

Source: PubMed - functional seizures Published 20 Oct 2026 Imported 20 Oct 2026 Relevancy: Not reviewed

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