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Updated: Aug 29, 2025

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Gain-of-Function Variants in Lipid Genes Enhance Biological Insight and Point Toward Therapeutic Opportunities
Sylvia Stankov1, Cecilia Vitali1, Daniel J Rader1,2
1Division of Translational Medicine and Therapeutics, Department of Medicine (S.S., C.V., D.J.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Circulation
|September 6, 2022
Abstract
No abstract available in PubMed .
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