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Updated: Sep 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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ACTC1变异导致孤立和综合性心脏表现型

Yuri A Zarate1, Lina Abdelmoti2, Seungjae Oh2

  • 1Division of Genetics and Metabolism, University of Kentucky, Lexington, Kentucky, USA.

Clinical genetics
|May 27, 2025
PubMed
概括

在ACTC1基因的致病变体导致心脏疾病. 这项研究确定了与心肌病和心脏外特征相关的新ACTC1变异,如面部形和骨异常.

关键词:
在ACTC1中,诺南综合征是什么意思左心室非紧缩的情况斑马鱼是一种斑马鱼.

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