Varaico: Literature-Extracted Genetic Variants

Gene:PRKAB1
Variant:p.G27V
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PRKAB1

NM_006253.5:p.G27V

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.

Oliveira SM et al.

Journal of Molecular and Cellular Cardiology, 2003

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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."