Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.G300A
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PHKA1

NM_002637.4:p.G300A

Associated Papers

An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.

Li H et al.

Neuromuscular Disorders : Nmd, 2020

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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."