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Updated: Jul 11, 2025

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在SYNGAP1基因中de novo变异的识别和功能性特征,导致智力障碍

Boxuan Li1, Yu Wang1, Dong Hou2,3

  • 1Center of Prenatal Diagnosis, Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan, China.

Frontiers in genetics
|November 6, 2023
PubMed
概括

研究人员在智力障碍 (ID) 患者中发现了SYNGAP1基因中的两个新的致病变异. 一个新型变体c.664-2A>G破坏了正常的mRNA拼接,为ID遗传学提供了洞察力.

关键词:
在 SYNGAP1 里面,你会发现一个人.智力障碍 智力障碍是一种智力障碍.迷你基因是一种微型基因.变种 变种 变种 变种 变种整体外基因组测序 (WES) 测序

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