Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.I91Splc
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PHKG2

NM_000294.3:p.I91Splc

Associated Papers

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

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Achouitar S et al.

Molecular Genetics and Metabolism, 2011

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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."