Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.Q287*
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PHKG2

NM_000294.3:p.Q287*

Associated Papers

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.

Shao Y et al.

Bmc Pediatrics, 2022

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Albash B et al.

European Journal of Pediatrics, 2014

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A et al.

Molecular Genetics and Metabolism, 0

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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."