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Updated: Jan 7, 2026

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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对CALM1/2相关疾病的表型扩展,包括没有心律失常的神经学表型

Hieu D Hoang1, Rebecca C Spillmann2, Daniel J Wegner1

  • 1Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.

Human molecular genetics
|December 30, 2025
PubMed
概括

新的calmodulin (CALM1/2) 变种引起神经症状,扩大已知的疾病表型超出心律失常. 这项研究确定了一种特定的CALM1/2变异,与发育迟缓和智力障碍有关,而不是心脏病.

关键词:
C. 优雅的 优雅的卡尔莫杜林是一种卡尔莫杜林.错误的意义的变体现型扩张 现型扩张拼接 拼接 拼接 拼接

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