Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.L413V
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H6PD

NM_004285.4:p.L413V

Associated Papers

Unregulated insulin secretion by pancreatic beta cells in hyperinsulinism/hyperammonemia syndrome: role of glutamate dehydrogenase, ATP-sensitive potassium channel, and nonselective cation channel.

Kawajiri M et al.

Pediatric Research, 2006

Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.

Raizen DM et al.

The Journal of Pediatrics, 2005

Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.

Fujioka H et al.

European Journal of Human Genetics : Ejhg, 2001

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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."