Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.R384*
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CYP11B2

NM_000498.3:p.R384*

Associated Papers

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

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

Miao H et al.

Steroids, 2019

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.

Kondo E et al.

Endocrine Journal, 2013

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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."