Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.F440L
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GLUD1

NM_005271.5:p.F440L

Associated Papers

Hyperinsulinism in infancy: from basic science to clinical disease.

Dunne MJ et al.

Physiological Reviews, 2004

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

MacMullen C et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.

Stanley CA et al.

Diabetes, 2000

Molecular basis of human glutamate dehydrogenase regulation under changing energy demands.

Mastorodemos V et al.

Journal of Neuroscience Research, 0

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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."