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Updated: May 30, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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一个汉族中国家庭的复杂结核硬化症复合体中的ATSC2复发型变异c.5126C>T

Xinyue Deng1, Shan Wu2, Hao Deng3

  • 1Xinyue Deng, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.

Pakistan journal of medical sciences
|January 27, 2025
PubMed
概括

这项研究确定了一种致病性TSC2基因变异 (c.5126C>T) 在一个汉族中国家庭的结核性硬化综合体 (TSC). 这一发现扩大了对TSC遗传原因和诊断的理解.

关键词:
是一种病.经常出现的变种.这就是TSC2基因.结核性硬化综合体 结核性硬化综合体整个外基因组的测序.

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