Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.G503E
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H6PD

NM_004285.4:p.G503E

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

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T et al.

Human Mutation, 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."