Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G222A
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G6PC1

NM_000151.4:p.G222A

Associated Papers

Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.

Plona KL et al.

Jimd Reports, 2021

A quaternary mechanism enables the complex biological functions of octameric human UDP-glucose pyrophosphorylase, a key enzyme in cell metabolism.

Führing JI et al.

Scientific Reports, 2015

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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."