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Updated: Jun 23, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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鉴定和分析性残症中的异构和副本数变异

Anum Shafique1, Ayesha Nadeem1, Faiza Aslam1

  • 1School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.

Scientific reports
|June 21, 2024
PubMed
概括

这项研究确定了遗传性性的新遗传原因,在SPG11,DDHD2和AP4B1基因中发现了功能丧失变异. 这些发现凸显了这些复杂的神经疾病背后的遗传多样性.

关键词:
在 AP4B1 中,AP4B1 是DDHD2 DDHD2 的意思是什么异源 (exome) 是指外源 (exome) 的一个部分.巴基斯坦 巴基斯坦 巴基斯坦.在SPG11中,SPG11就是SPG11.的情况是Spasticity.

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