利用全基因组测序鉴定出由倒位和缺失引起的结节性硬化症复合体：一项病例研究。 - Suppr

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超能文献

Tuberous Sclerosis Complex Caused by Inversion and Deletions Identified Using Whole-genome Sequencing: A Case Study.

作者信息

Yoon DongJu, Kwon Jung Ah, Yoon Soo-Young, Eun Baik-Lin, Yoon Jung

机构信息

Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea.

Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2025 Jul 1;45(4):463-366. doi: 10.3343/alm.2025.0063. Epub 2025 Jun 17.

DOI:10.3343/alm.2025.0063

PMID:40524636

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12187500/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/58ff/12187500/5411b29451ab/alm-45-4-463-f1.jpg

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