Related Experiment Video

Updated: May 28, 2026

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

Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac

Hatice Kemal1, Mahmut Cerkez Ergoren2, Behich Koyutourk2

  • 1Department of Cardiology, Near East University Hospital, Nicosia, Cyprus.

Pacing and Clinical Electrophysiology : PACE
|May 26, 2026
PubMed
Abstract

Keywords:
Gitelman syndromeSLC12A3hypokalemiahypomagnesemiasudden cardiac arrestventricular arrhythmiaswhole exome sequencing

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