Related Experiment Video

Updated: Jul 12, 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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Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical

Elcin Bora1, Ayca Yıldız Bulut1, Tufan Cankaya1

  • 1Department of Medical Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.

Molecular Syndromology
|October 30, 2023
PubMed
Abstract

Keywords:
Clinical heterogeneityDual phenotypeGenetic counselingLong QT syndromeNext-generation sequencing

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