chinese with neurodevelopmental disorders
收藏NIAID Data Ecosystem2026-05-10 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP466398
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资源简介：
A novel ATAD3 duplication in a Chinese patient with epilepsy and hyperlactacidemia expands the range of clinical phenotype of 1p36.33 duplication syndrome/Wwhole-exome sequencing analysis on two children with epileptic symptoms but nowithout nodules uncover, and found a de novo heterozygous missense mutation in the ARF1 gene .
创建时间：
2025-11-01
