Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.A866Splc
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PHKA2

NM_000292.3:p.A866Splc

Associated Papers

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.

Sato T et al.

Congenital Anomalies, 2024

Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis.

Garcia-Llorens G et al.

Journal of Personalized Medicine, 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."