Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.R141*
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CYP11B2

NM_000498.3:p.R141*

Associated Papers

Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.

Karlekar MP et al.

Clinical Endocrinology, 2021

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Bulsari K et al.

Endocrine, 2017

Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.

Wang X et al.

Steroids, 2015

A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.

Zhang M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2013

[Four cases of aldosterone synthase deficiency in childhood].

Collinet E et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012

Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.

Peter M et al.

Hormone Research, 1999

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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."