Related Experiment Video

Updated: May 16, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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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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Congenital Short QT Syndrome　- Review Focused on KCNQ1 p.Val141Met Variant

Minoru Horie1, Hirofumi Saiki2, Takanori Aizawa3

  • 1Department of Cardiovascular Medicine, Shiga University of Medical Science.

Circulation Journal : Official Journal of the Japanese Circulation Society
|May 14, 2025
PubMed
Abstract

Keywords:
Atrial and ventricular remodelingAtrial fibrillationKCNQ1 p.Val141MetReverse remodelingShort QT syndromeSick sinus syndromeVentricular arrhythmia

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