Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.F233S
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PHKG2

NM_000294.3:p.F233S

Associated Papers

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

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

Shao Y et al.

Bmc Pediatrics, 2022

Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.

Korula S et al.

Journal of Clinical and Experimental Hepatology, 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."