Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G446D
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GCK

NM_000162.5:p.G446D

Associated Papers

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

Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children.

Thomas PM

Endocrinology and Metabolism Clinics of North America, 1999

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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."