Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.E157K
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PHKG2

NM_000294.3:p.E157K

Associated Papers

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Sun C et al.

Orphanet Journal of Rare Diseases, 2025

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A et al.

Molecular Genetics and Metabolism, 2014

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Burwinkel B et al.

Pediatric Research, 2003

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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."