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Updated: Jul 24, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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17q25.3 副本数量变化:与神经发育障碍和心脏形有关

Nikhil Shri Sahajpal1, David H F Jeffrey1, Barbara R DuPont1

  • 1Diagnostic Laboratories, Greenwood Genetic Center, Greenwood, SC, 29646, USA.

Molecular cytogenetics
|July 10, 2023
PubMed
概括

在17q25.3区域的罕见副本数变异 (CNV) 与神经发育和心血管疾病有关. 这项研究强调了这些罕见的基因组变化的表型影响,涉及到特定基因的疾病因果关系.

关键词:
17q25 地区地区基因型表型相关性相关性尼希耶 (NHEJ) 是一个神经发育障碍 神经发育障碍罕见的副本编号变体.

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