A Novel Gain-of-Function Variant in RNF13 Cause Developmental and epileptic encephalopathy in a Chinese Patient
收藏DataCite Commons2025-06-02 更新2025-09-08 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/29179328/1
下载链接
链接失效反馈官方服务：
资源简介：
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.
提供机构：
figshare
创建时间：
2025-06-02
