Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.G400_T401Splc
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CYP11B2

NM_000498.3:p.G400_T401Splc

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

Clinical analysis of salt-wasting in infants due to genetic aetiology.

Xie Y et al.

Endokrynologia Polska, 2024

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

Gurpinar Tosun B et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Aldosterone signaling defect in young infants: single-center report and review.

Wijaya M et al.

Bmc Endocrine Disorders, 2021

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Nguyen HH et al.

The Journal of Steroid Biochemistry and Molecular Biology, 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."