Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.A291A
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CYP11B1

NM_000497.4:p.A291A

Associated Papers

The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.

Long Y et al.

Endocrine Journal, 2016

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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."