Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.L461P
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CYP11B1

NM_000497.4:p.L461P

Associated Papers

A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.

Hoseinzadeh M et al.

Laboratory Medicine, 2023

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Parajes S et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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."