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Updated: Jul 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在患有46,XY部分淋巴腺发育不良的患者中发现的DHX37和NR5A1变异

Felipe Rodrigues de Oliveira1,2, Taís Nitsch Mazzola3, Maricilda Palandi de Mello1,4

  • 1Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Campinas 13083-875, Brazil.

Life (Basel, Switzerland)
|May 27, 2023
PubMed
概括

DHX37基因的变异是一种新发现的46,XY淋腺失调症 (GD) 的原因,这是影响丸发育的疾病. 这一发现扩大了我们对导致性发育障碍的遗传因素的理解.

关键词:
DHX37 DHX37 在线播放在NR5A1中,性发育障碍 性发育障碍发生性腺失调的发生.

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