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Updated: Sep 5, 2025

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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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Ion-ing out the genetic variants of Kir2.1
Braden S Fallon1, Justin G English1
1Department of Biochemistry, University of Utah, Salt Lake City, United States.
Elife
|July 11, 2022
Abstract:
Deep mutational scanning provides new insights into how mutations alter the expression and activity of the potassium ion channel Kir2.1, which is associated with many diseases.
Keywords:
deep mutational scanningfoldinggatinggeneticsgenomicshigh-throughpution channelmolecular biophysicsmousestructural biologyvariant effect predictionMore Related Videos
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