Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.R531W
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PRKAG2

NM_016203.4:p.R531W

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

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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."