Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.K97N
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G6PD

NM_001360016.2:p.K97N

Associated Papers

Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.

Zhao B et al.

The Journal of Biological Chemistry, 2012

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

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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."