Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.Q27*
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G6PC1

NM_000151.4:p.Q27*

Associated Papers

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

Plona KL et al.

Jimd Reports, 2021

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

Peeks F et al.

Journal of Inherited Metabolic Disease, 2017

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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."