Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.K326K
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H6PD

NM_004285.4:p.K326K

Associated Papers

Two unrelated Chinese patients with hyperinsulinism /hyperammonemia (HI/HA) syndrome due to mutations in glutamate dehydrogenase gene.

Diao C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

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

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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."