Human Genetics
Neural Regulation
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Updated: Aug 11, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Hildur M Aegisdottir1,2, Rosa B Thorolfsdottir1, Gardar Sveinbjornsson1
1deCODE genetics/Amgen, Inc., Sturlugata 8, Reykjavik 101, Iceland.
This study identified 18 genetic variants linked to syncope, revealing its distinct genetic architecture. Findings highlight neural regulation and cardiovascular links, emphasizing thorough patient assessment.
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