Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G222V
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G6PC1

NM_000151.4:p.G222V

Associated Papers

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ et al.

The Journal of Biological Chemistry, 1995

[Case of a combination of enzyme-deficient forms of methemoglobinemia with enzyme-deficient hemolytic disease and reduced oxygenation of hemoglobin].

Gembitskiĭ EV et al.

Problemy Gematologii I Perelivaniia Krovi, 1975

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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."