Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.H145delFs
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PHKG2

NM_000294.3:p.H145delFs

Associated Papers

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Kor D et al.

Orphanet Journal of Rare Diseases, 2025

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.

Bilgin H et al.

Molecular Genetics and Metabolism Reports, 2024

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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."