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Updated: Jan 9, 2026

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患者衍生变体定义了在CASK的PDZ域中对联体结合的约束

Debora Tibbe1, Hans-Hinrich Hönck1, Neha Bhatia2

  • 1Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Journal of neurochemistry
|December 1, 2025
PubMed
概括

CASK基因中的遗传变异与神经发育障碍有关. 新的研究表明,SH3域变异破坏了神经素结合,突出显示了CASK PSG超模块.

关键词:
卡斯克 (CASK) 是一个有趣的东西.这是一个PDZ域名.突变是一种突变.神经发育障碍是一种神经发育障碍.在前突触时,会出现突触前突触.

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