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Updated: May 30, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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新奇的De Novo SYNGAP1的内部变体与神经发育障碍相关

Wuming Xie1, Baoqiong Liao2,3, Mei Shuai2

  • 1Ganzhou People's Hospital, Ganzhou, Jiangxi, China.

Molecular genetics & genomic medicine
|January 29, 2025
PubMed
概括

一种新的SYNGAP1基因变异 (c.3582+2T>G) 导致框架转移,导致截断的蛋白质和SYNGAP1相关的神经发育障碍. 这一发现为这些疾病的遗传原因提供了洞察力.

关键词:
在 SYNGAP1 里面,你会发现一个人.内部变化的内部变化.迷你基因是一种微型基因.变体解释变体解释整体外基因组测序的测序

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