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Updated: Jun 25, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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新型双丁基因变异中的表型变异与皮下带异质相关的新型双丁基因变异

Radha Procopio1, Francesco Fortunato2, Monica Gagliardi1

  • 1Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy.

International journal of molecular sciences
|May 25, 2024
PubMed
概括

双丁 (DCX) 基因中的遗传变异会导致皮下带异位 (SBH),这是一个lissencephaly谱系障碍. 这项研究确定了新的DCX变体,并扩大了对SBH基因型-表型相关性的理解.

关键词:
在 DCX DCX DCX 中.皮下带异形 (SBH) 是指皮下带异形 (SBH).双重的cortin 在双重的cortin

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