Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.I550insFs
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PRKAG2

NM_016203.4:p.I550insFs

Associated Papers

Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.

Janin A et al.

Circulation. Genomic and Precision Medicine, 2023

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Janin A et al.

Molecular Diagnosis & Therapy, 2022

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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."