DNA-seq data of SLC13A5 mutant
dataset
posted on 2025-04-15, 13:40 authored by Hua He, Lijuan Long, Manling Tang, Qiang Xu, Shengwu Duan, Ge Chen, Yan Zhao, Qiongfang Wu, Jia ChenWe identified a novel homozygous SLC13A5 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.
