Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.D123A
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H6PD

NM_004285.4:p.D123A

Associated Papers

Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.

Grimaldi M et al.

Human Molecular Genetics, 2017

Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site.

Li C et al.

The Journal of Biological Chemistry, 2011

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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."