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Updated: Dec 18, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic

Oscar Campuzano1,2,3, Georgia Sarquella-Brugada3,4, Elena Arbelo2,5

  • 1Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain.

Journal of Clinical Medicine
|June 19, 2020
PubMed

Keywords:
arrhythmiasgenetic diagnosisnext-generation sequencingsudden cardiac death

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