Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.I550fs
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PRKAG2

NM_016203.4:p.I550fs

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

Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.

Janin A et al.

Circulation. Genomic and Precision Medicine, 2023

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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."