Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.H401Q
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PRKAG2

NM_016203.4:p.H401Q

Associated Papers

When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.

Micaglio E et al.

International Journal of Molecular Sciences, 2024

Genetic variants in Colombian patients with inherited cardiac conditions.

Rucinski C et al.

Molecular Genetics & Genomic Medicine, 2022

Sudden death associated with a novel H401Q PRKAG2 mutation.

Albernaz Siqueira MH 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, 2020

Exercise restriction is protective for genotype-positive family members of arrhythmogenic right ventricular cardiomyopathy patients.

Wang W 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, 2020

Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.

Hu D et al.

Ebiomedicine, 2020

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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."