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Updated: May 26, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

907

在BSN中的变异,编码前突触蛋白Bassoon,导致一种具有广泛表型范围的新型神经发育障碍

Stacy G Guzman1,2, Sarah M Ruggiero2,3,4,5, Shiva Ganesan2,3,4,5

  • 1Department of Biochemistry, Biophysics, and Chemical Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

medRxiv : the preprint server for health sciences
|February 24, 2025
PubMed
概括

在BSN基因中的破坏性变异会导致新的突触障碍. 这种情况呈现出各种神经发育和症状,在不同年龄组的严重程度上有所不同.

关键词:
发育性和性脑病变.是一种.遗传学 遗传学 遗传学 是一个

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