DNA-seq data of SLC13A5 mutant
收藏DataCite Commons2025-06-01 更新2025-05-07 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：
figshare
创建时间：
2025-04-15
