Varaico: Literature-Extracted Genetic Variants

Gene:PRKAA2
Variant:p.R531H
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PRKAA2

NM_006252.4:p.R531H

Associated Papers

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

PRKAG2 mutations presenting in infancy.

Torok RD et al.

Journal of Inherited Metabolic Disease, 2017

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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."