Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.R341P
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CYP11B1

NM_000497.4:p.R341P

Associated Papers

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

Tardy V et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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."