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Updated: Jul 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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在状细胞病患者的QT间隔延长的遗传变异和效果修饰剂

Mengna Zhang1, William B Hillegass1, Xue Yu1

  • 1Department of Data Science, University of Mississippi Medical Center, Jackson, MS 39216, USA; Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.

Gene
|September 23, 2023
PubMed
概括

在状细胞病 (SCD) 患者中,遗传变异显著延长了纠正的QT (QTc) 间隔,增加了突然心脏死亡的风险. 血清氨酸转胺酶 (ALT) 修改了这种遗传效应,突出了它在SCD心脏健康中的作用.

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