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Updated: Jul 26, 2025

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更新了与神经发育障碍表型相关的CTCF变体目录

Emma Price1, Liron M Fedida1, Elena M Pugacheva1

  • 1Molecular Pathology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

Frontiers in molecular neuroscience
|June 16, 2023
PubMed
概括

与CTCF相关的疾病 (CRD) 是一种由CTCF基因变异引起的神经发育障碍. 这项研究确定了与NDD相关的86种新的CTCF变异,创建了一个用于研究和诊断的全面目录.

关键词:
在CTCF中,CTCF是指CTCF.基因型-表型 基因型-表型突变是一种突变.神经发育障碍 神经发育障碍下一代测序 (NGS) 是指下一代的测序.变种 变种 变种 变种 变种

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