Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.R332W
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CYP11B1

NM_000497.4:p.R332W

Associated Papers

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S et al.

European Journal of Human Genetics : Ejhg, 2020

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S et al.

European Journal of Human Genetics : Ejhg, 2014

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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."