Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.L399F
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PRKAG2

NM_016203.4:p.L399F

Associated Papers

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

Pham C et al.

Clinical Genetics, 2024

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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."