Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.R109delFs
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H6PD

NM_004285.4:p.R109delFs

Associated Papers

[Importance of the 11β-hydroxysteroid dehydrogenase enzyme in clinical disorders].

Feldman K et al.

Orvosi Hetilap, 2013

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.

Lavery GG et al.

European Journal of Endocrinology, 2013

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

Qin K et al.

Steroids, 2011

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."