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Updated: May 27, 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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聚焦JAK-STAT途径中的氨基酸变异突变:从疾病特异性突变到一般突变数据库

Markus Hoffmann1, Lothar Hennighausen2

  • 1Laboratory of Genetics and Physiology, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA. markus.hoffmann@nih.gov.

Scientific reports
|February 20, 2025
PubMed
概括

在健康个体中调查JAK-STAT通路突变,发现了频繁的遗传变异,特别是在白人女性中. 将癌症和人口数据库进行比较,突显出需要进行全面的突变分析,以了解疾病的发展.

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