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Updated: Jun 28, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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识别新型疾病基因并揭示单一性疾病的病理机制

Noriko Miyake1

  • 1Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.

Pediatrics international : official journal of the Japan Pediatric Society
|April 20, 2024
PubMed
概括

研究人员使用先进的基因组分析技术确定了60多种单一性疾病的新型疾病基因. 这项研究促进了对遗传疾病的理解,并有助于开发用于罕见疾病的新疗法.

关键词:
疾病 基因 基因 疾病基因组分析 基因组分析单一性疾病的单一性疾病.病理机制是一种病理机制.

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