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Updated: Jul 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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NR2F2中罕见的异合体变体会导致可识别的多重先天性异常综合征与发育延迟

Mythily Ganapathi1, Leticia S Matsuoka2, Michael March2

  • 1Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.

European journal of human genetics : EJHG
|July 27, 2023
PubMed
概括

NR2F2基因的罕见变异会导致广泛的先天性异常,包括心脏缺陷和发育迟缓. 这项研究扩大了已知的NR2F2表型谱,并为受影响的个体提供了临床指导.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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