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Updated: Jun 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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疾病变异的基于路径的,针对特定反应的注释,以阐明分子表型

Marija Orlic-Milacic1, Karen Rothfels1, Lisa Matthews2

  • 1Adaptive Oncology, Ontario Institute for Cancer Research, 661 University Avenue Suite 510, Toronto, ON M5G 0A3, Canada.

Database : the journal of biological databases and curation
|May 7, 2024
PubMed
概括

Reactome 在生物途径中注释了4000多种疾病变异,使分子表型和变异性致病性的计算分析成为可能. 本资源有助于理解基因突变如何影响人类生物学和疾病.

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