A Novel Gain-of-Function Variant in RNF13 Cause Developmental and epileptic encephalopathy in a Chinese Patient
<p dir="ltr"> 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 com...
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2025
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