Related Experiment Video

Updated: May 10, 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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Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome

Dasom Mun1, Ji-Young Kang1, Malgeum Park1

  • 1Division of Cardiology, Yonsei University College of Medicine, Seoul, Republic of Korea.

Frontiers in Cardiovascular Medicine
|April 24, 2025
PubMed
Abstract

Keywords:
KCNH2G53SPAS domainhiPSC-CMslong QT syndrome type 2variant

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