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Updated: May 16, 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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A Novel Gain-of-Function CACNA1C Variant (Gly856Asp) Associated With QT Prolongation and Sudden Death

Rafik Tadros1, Juan Zhao2, Charles Leduc3

  • 1Département de Pharmacologie et Physiologie, Faculté de Médecine, Université de Montréal, Montreal, Quebec, Canada; Montreal Heart Institute Research Centre, Montreal, Quebec, Canada; Département de Médecine, Faculté de Médecine, Université de Montréal, Montreal, Quebec, Canada; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, Quebec, Canada.

JACC. Case Reports
|April 4, 2025
PubMed

Keywords:
CACNA1Ccalcium channelfunctional studylong QT syndromesudden cardiac death

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