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鉴定了五种新的SCN1A变种

Baitao Zeng1,2, Haoyi Zhang3, Qing Lu1,2

  • 1Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.

Frontiers in behavioral neuroscience
|November 29, 2023
PubMed
概括

在患者中发现了五种新的SCN1A基因变异. 这些发现扩大了SCN1A突变数据库,有助于SCN1A相关疾病的遗传咨询.

关键词:
德拉维特综合征是什么?德拉维特综合征是什么这就是SCN1A.在新的 de novo.是一种.发作 发作 这些

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