Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.L8P
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G6PC1

NM_000151.4:p.L8P

Associated Papers

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.

Pinheiro FC et al.

Molecular Genetics and Metabolism Reports, 2020

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

Mahmoud SK et al.

Journal of Genetics, 2017

A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.

Gu LL et al.

Gene, 2014

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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."