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Updated: Jun 24, 2025

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

Published on: August 15, 2019

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在Silver-Russell综合征中影响HMGA2的致病序列变异和微删除:病例报告和文献综述

Kaori Yamoto1,2, Hirotomo Saitsu1, Yumiko Ohkubo3

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan.

Clinical epigenetics
|June 5, 2024
PubMed
概括

银-拉塞尔综合征 (SRS) 是一种生长障碍,与HMGA2基因变异有关. 这项研究在日本SRS患者中发现了新的HMGA2突变,支持其在SRS发展中的作用.

关键词:
在HMGA2中使用.IGF2 IGF2是什么意思12q14 微删除 微删除银 拉塞尔综合征整个外基因组的测序.

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