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Updated: Jan 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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现型卡尼-斯特拉塔基斯综合征与DIS3L2变异:一个挑战当前遗传范式的病例

Yacob Saleh1, Somaya Al Kiswani2, Ahmad Muhtaseb3

  • 1Internal Medicine Department, King Hussein Cancer Center, Amman, Jordan.

Proceedings (Baylor University. Medical Center)
|December 4, 2025
PubMed
概括

卡尼-斯特拉塔基斯综合征 (CSS) 是一种罕见的遗传疾病. 本案例研究介绍了一名患有CSS的患者和一种新的DIS3L2基因变异,突出显示了这种疾病的潜在新研究途径.

关键词:
卡尼 - 斯特拉塔基斯综合征在 DIS3L2 基因.这就是GIST GIST.胃胃肠道侧面瘤 胃胃肠道侧面瘤泌尿膀副质瘤是什么意思

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