Related Experiment Video

Updated: Dec 23, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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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SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes

Keiko Sonoda1,2,3, Seiko Ohno1,2,4, Yukiko Shimizu5

  • 1Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.

Pacing and Clinical Electrophysiology : PACE
|April 24, 2020
PubMed
Abstract

Keywords:
SCN5AScTdPgeneticsinherited arrhythmiaion channel

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