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Updated: Jul 23, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在ACTC1的变种背后是远端关节缩症,伴随着先天性心脏缺陷

Jessica X Chong1,2, Matthew Carter Childers3,4, Colby T Marvin1

  • 1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

HGG advances
|July 17, 2023
PubMed
概括

ACTC1基因的致病变异会导致远端关节缩症 (DA),并且可以影响骨和心脏肌肉. 这项研究确定了ACTC1变异为DA的新原因,突出了不同肌肉类型的共享基因功能.

关键词:
门德尔氏病是门德尔氏病的一种疾病.门德尔的障碍是门德尔的障碍.这是心脏缺陷.心肌病性心脏病 - 心肌病性心脏病有先天性契约的情况远端关节形的位置.外基因组测序是指外基因组的测序.基因发现的基因发现分子动力学模拟,分子动力学模拟

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