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Updated: Jun 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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THRB基因马赛克主义通过下一代测序在临床症状婴儿中得到证实

Jenny Yeuk Ki Cheng1,2, Shreenidhi Ranganatha Subramaniam1,2, Hoi Shan Leung1

  • 1Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong, China.

JCEM case reports
|May 6, 2024
PubMed
概括

这项研究确定了THRB基因中的一个新的马赛克变异,导致新生儿对甲状腺激素β综合征产生抵抗力. 这一遗传发现解释了婴儿的症状,并突出了马赛克变异的独特遗传模式.

关键词:
这就是THRB的THRB.马赛克主义的马赛克主义.这是下一代测序.对甲状腺激素β综合征的抵抗性

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The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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