Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.R356W
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ATF6B

NM_004381.5:p.R356W

Associated Papers

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

Claahsen-van der Grinten HL et al.

Endocrine Reviews, 2022

The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.

Kirac D et al.

Annals of Human Genetics, 2014

Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.

Ma D et al.

Clinical Biochemistry, 2014

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Coeli FB et al.

Bmc Medical Genetics, 2010

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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."