Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.Q104L
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G6PC1

NM_000151.4:p.Q104L

Associated Papers

Clinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.

Xu Y et al.

European Journal of Pediatrics, 2025

Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone.

Wu S et al.

Frontiers in Pediatrics, 2022

A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.

Zhu J et al.

Gene, 2012

[Glycogen storage disease type I in a child with coexistent Cryptococcus histolyticus meningitis].

Han QH et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2006

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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."