DNA-seq data of SLC13A5 mutant
收藏Figshare2025-04-15 更新2026-04-08 收录
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https://figshare.com/articles/dataset/DNA-seq_data_of_SLC13A5_mutant/28795916/1
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资源简介：
We identified a novel homozygous <i>SLC13A5</i> nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay.The DNA sequencing data confirmed the SLC13A5 mutation in the patient and her parents by Sanger sequencing.
提供机构：
Wu, Qiongfang; He, Hua; Chen, Ge; Xu, Qiang; Tang, Manling; Long, Lijuan; Zhao, Yan; Duan, Shengwu; Chen, Jia
创建时间：
2025-04-15
