A Novel Gain-of-Function Variant in RNF13 Cause Developmental and epileptic encephalopathy in a Chinese Patient
收藏NIAID Data Ecosystem2026-05-02 收录
下载链接：
https://figshare.com/articles/dataset/A_Novel_Gain-of-Function_Variant_in_RNF13_Cause_Developmental_and_epileptic_encephalopathy_in_a_Chinese_Patient/29179328
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资源简介：
Our study enriches the genetic landscape of DEE73 and augments the understanding of phenotypic variability resulting from RNF13 gene variants. The findings hold considerable significance for refining variant-based screening, genetic diagnosis, and comprehending the molecular pathogenesis underlying RNF13-related disorders.
创建时间：
2025-06-02
