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Updated: Jan 13, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
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与GRIN2B相关的神经发育障碍:基因型-表型相关性和治疗影响

Changning Xie1, Miriam Kessi1, Fangyun Liu1

  • 1Department of Pediatrics, Xiangya Hospital, Central South University, Xiangya Road 87, Changsha, Hunan, 410008, China.

Orphanet journal of rare diseases
|October 28, 2025
PubMed
概括

致病的GRIN2B变种会导致神经发育障碍. 这项研究区分了功能增益 (GOF) 和功能丧失 (LOF) 变体,揭示了不同的表型,并表明记忆素可能会改善结果.

关键词:
在GRIN2B中,它是GRIN2B.功能获取 - 功能获取功能丧失 - 功能丧失.神经发育障碍 神经发育障碍表型-基因型的关联表型-基因型的关联

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