Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.G37R
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CACNA1C

NM_000719.7:p.G37R

Associated Papers

Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39482628 (PubMed )
Supplement: 12872_2024_4286_MOESM1_ESM.xlsx › Tabelle1

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39068400 (PubMed )
Supplement: 12872_2024_4065_MOESM2_ESM.xlsx › Tabelle1

Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.

Badura K et al.

International Journal of Molecular Sciences, 2024

Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes.

Zeng B et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Maksemous N et al.

Molecular Neurobiology, 2023

36786913 (PubMed )
Supplement: 12035_2023_3255_MOESM1_ESM.xlsx › Supplementary_Table_1

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Tarnovskaya SI et al.

Membranes, 2021

Clinical and Functional Genetic Characterization of the Role of Cardiac Calcium Channel Variants in the Early Repolarization Syndrome.

Chen X et al.

Frontiers in Cardiovascular Medicine, 2021

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Aguib Y et al.

Npj Genomic Medicine, 2020

33110626 (PubMed )
Supplement: 41525_2020_153_MOESM1_ESM.pdf

Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.

Dewar LJ et al.

Circulation. Cardiovascular Genetics, 2017

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Nunn LM et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2016

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Burashnikov E et al.

Heart Rhythm, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."