whole exome sequencing of one patient with epilepsy and development delay
收藏NIAID Data Ecosystem2026-03-12 收录
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资源简介：
clinical testing for patients with epilepsy and development delay. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs) . SNP mutation analysis based WES data revealed the maternal uniparental disomy (1q32.1) unmasked the homozygous variant of CNTN2.
创建时间：
2021-08-31
