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与精神分裂症和神经发育障碍相关的GRIN2A突变的不同功能后果

Nate Shepard1, David Baez-Nieto1, Sumaiya Iqbal2

  • 1Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Scientific reports
|February 2, 2024
PubMed
概括

GRIN2A中的遗传变异影响NMDA受体功能,解释了各种神经疾病. 与精神分裂症相关的变体会导致功能丧失,而和发育迟缓的变体则表现出混合的影响.

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