Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.H401D
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PRKAG2

NM_016203.4:p.H401D

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

Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.

Gong X et al.

Molecular Genetics & Genomic Medicine, 2022

Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.

Ahamed H et al.

Scientific Reports, 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."