Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.H466_V467Splc
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CYP11B2

NM_000498.3:p.H466_V467Splc

Associated Papers

Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.

Faingelernt Y et al.

American Journal of Medical Genetics. Part A, 2021

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Merakou C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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

Miao H et al.

Steroids, 2019

A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.

Alfaraidi L et al.

Case Reports in Endocrinology, 2017

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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."