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Updated: Oct 5, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Coding and regulatory variants are associated with serum protein levels and disease

Valur Emilsson1,2, Valborg Gudmundsdottir3, Alexander Gudjonsson3

  • 1Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland. valur@hjarta.is.

Nature Communications
|January 26, 2022
PubMed
Abstract

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