Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.E147D
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CYP11B1

NM_000497.4:p.E147D

Associated Papers

Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.

Chan K et al.

Frontiers in Genetics, 2026

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.

Hampf M et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Amino acid residue 147 of human aldosterone synthase and 11beta-hydroxylase plays a key role in 11beta-hydroxylation.

Fisher A et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

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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."