DNA-seq data of SLC13A5 mutant
收藏Figshare2025-04-15 更新2026-04-28 收录
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https://figshare.com/articles/dataset/DNA-seq_data_of_SLC13A5_mutant/28795916
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资源简介：
We 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.
创建时间：
2025-04-15
