DNA-seq data of SLC13A5 mutant
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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.
创建时间：
2025-04-15
