Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.R76*
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PHKG2

NM_000294.3:p.R76*

Associated Papers

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Waheed N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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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."