Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.G359D
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H6PD

NM_004285.4:p.G359D

Associated Papers

Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.

Qin K et al.

Steroids, 2011

Hexose-6-phosphate dehydrogenase in the endoplasmic reticulum.

Senesi S et al.

Biological Chemistry, 2010

Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.

Lavery GG et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."