Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.S298C
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G6PC1

NM_000151.4:p.S298C

Associated Papers

Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells.

Cao J et al.

Amino Acids, 2023

Gene therapy and genome editing for type I glycogen storage diseases.

Chou JY et al.

Frontiers in Molecular Medicine, 2023

Studies on glycogen storage disease type 1a animal models: a brief perspective.

Petrova IO et al.

Transgenic Research, 2022

mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease.

Cao J et al.

Nature Communications, 2021

Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.

Zhang L et al.

Biochemical and Biophysical Research Communications, 2020

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.

Zhang L et al.

Journal of Inherited Metabolic Disease, 2019

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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."