Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.L216Splc
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PHKG2

NM_000294.3:p.L216Splc

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 disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS et al.

Molecular Genetics and Metabolism, 2014

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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."