A Novel Gain-of-Function Variant in RNF13 Cause Developmental and epileptic encephalopathy in a Chinese Patient
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Our study enriches the genetic landscape of DEE73 and augments the understanding of phenotypic variability resulting from <i>RNF13</i> gene variants. The findings hold considerable significance for refining variant-based screening, genetic diagnosis, and comprehending the molecular pathogenesis underlying <i>RNF13</i>-related disorders.
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2025-06-02
