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Updated: Jun 15, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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产前神经放射学现象与PPP2R1A中反复出现的致病变体相关

Calder Hamill1,2, Stacy Goergen3,4, Michael Fahey1,2,5

  • 1Monash Genetics, Monash Health, Melbourne, Australia.

Prenatal diagnosis
|July 6, 2025
PubMed
概括

产前诊断PPP2R1A相关的神经发育障碍 (PPP2R1A-rNDD) 是可能通过特征性脑成像. 这项研究确定了与特定的PPP2R1A变异相关的关键神经放射学发现.

关键词:
这就是PPP2R1A.体的异常 体的异常波恩斯的低成形症.产前诊断 在产前诊断.腹腔内膜增大症是什么

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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...