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Updated: Jul 19, 2025

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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一种新的GATA2远端增强器突变导致2名二代表亲患有MonoMAC综合征

Robert R West1, Thomas R Bauer1, Laura M Tuschong1

  • 1Immune Deficiency-Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.

Blood advances
|August 18, 2023
PubMed
概括

一个新的GATA2增强器突变通过增加GATA2表达导致MonoMAC综合征. 这一发现扩大了对GATA2缺乏及其遗传基础的理解,为造血性疾病提供了新的见解.

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