Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.I497M
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GLUD1

NM_005271.5:p.I497M

Associated Papers

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.

Pacheco G et al.

Plos One, 2025

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Aftab S et al.

Endocrine Connections, 2023

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene.

Corrêa-Giannella ML et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

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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."