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Updated: Jun 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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在儿科长QT综合征中优先重新分类变异 - 时间重新访问

Hei-To Leung1, Sit-Yee Kwok2, Ka-Yee Kwong3

  • 1Department of Paediatrics & Adolescent Medicine, Hong Kong Children's Hospital, 1 Shing Cheong Rd, Ngau Tau Kok, Hong Kong SAR, China.

Pediatric cardiology
|April 2, 2024
PubMed
概括

在先天性长QT综合征 (LQTS) 中重新分类遗传变异至关重要. 这项研究发现,许多变异,特别是未知意义的变异 (VUS),被重新分类,改善了患者的护理.

关键词:
长时间QT综合征儿科 儿科 儿科这就是VUS VUS VUS.变体分类的变体分类

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