Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.R32Splc
Back to variants list

PHKG2

NM_000294.3:p.R32Splc

Associated Papers

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

Iyengar AK et al.

Genetics in Medicine Open, 2026

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

Sun C et al.

Orphanet Journal of Rare Diseases, 2025

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

Iyengar AK et al.

Biorxiv : the Preprint Server for Biology, 2025

40462889 (PubMed )
Supplement: media-2.pdf

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."