Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.L93delFs
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PHKG2

NM_000294.3:p.L93delFs

Associated Papers

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

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 glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.

Burwinkel B et al.

Human Molecular Genetics, 1998

Glycogen storage disease type IX: High variability in clinical phenotype.

Beauchamp NJ 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."