Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.G509A
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GLUD1

NM_005271.5:p.G509A

Associated Papers

Neanderthal and Denisovan Glutamate Dehydrogenase 2 Evolution and Clinical Significance.

Aleshina YA et al.

International Journal of Molecular Sciences, 2025

Evolutionary Changes in Primate Glutamate Dehydrogenases 1 and 2 Influence the Protein Regulation by Ligands, Targeting and Posttranslational Modifications.

Aleshina YA et al.

International Journal of Molecular Sciences, 2024

Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.

Tran C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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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."