Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.L462R
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CYP11B2

NM_000498.3:p.L462R

Associated Papers

Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.

Miao H et al.

Steroids, 2019

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.

Turan I et al.

Clinical Endocrinology, 2018

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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."