Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.R384G
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PRKAG2

NM_016203.4:p.R384G

Associated Papers

PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.

White-Brown AM et al.

American Journal of Medical Genetics. Part A, 2025

Severe Hypertrophic Cardiomyopathy Caused by a Protein Kinase Adenosine Monophosphate-Activated Non-catalytic Subunit Gamma 2 (PRKAG2) Mutation With Refractory Chylous Effusions in a Neonate: A Case Report and Literature Review.

Minamitani Y et al.

Cureus, 2024

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