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Updated: Jul 26, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Balancing Nonsense Mutation Readthrough and Toxicity of Designer Aminoglycosides for Treatment of Genetic Diseases

Sandip Guchhait1, Alina Khononov1, Tomasz Pieńko1

  • 1The Edith and Joseph Fischer Enzyme Inhibitors Laboratory, Schulich Faculty of Chemistry, Technion - Israel Institute of Technology, Haifa 3200003, Israel.

ACS Medicinal Chemistry Letters
|June 14, 2023
PubMed

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