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Updated: Jun 5, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

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在SYNGAP1相关的精神残疾5型中基因型-表型相关性

Liying Hong1, Qifeng Yuan2

  • 1Department of Functional (ECG Room), Nanchang First Hospital, Nanchang, China.

Clinical genetics
|December 8, 2024
PubMed
概括

在SYNGAP1基因的遗传变异导致精神迟缓类型5 (MRD5). 这项研究将SYNGAP1基因突变与特定的临床特征联系起来,包括智力障碍,和自闭症谱系障碍.

关键词:
在 SYNGAP1 里面,你会发现一个人.自闭症谱系障碍 自闭症谱系障碍是一种.智力障碍 智力障碍是一种智力障碍.神经发育障碍 神经发育障碍

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