Related Experiment Video

Updated: Aug 23, 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

Published on: January 16, 2019

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Same family, same mutation, different ECG

Kürşat Akbuğa1, Mustafa Karanfil2

  • 1Cardiology Department, Faculty of Medicine, TOBB ETU, Ankara, Turkey.

Molecular Genetics & Genomic Medicine
|October 28, 2022
PubMed
Abstract

Keywords:
electrocardiographylong QT syndromemutation

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