Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.V281L
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ATF6B

NM_004381.5:p.V281L

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

Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.

Skordis N et al.

Clinical Biochemistry, 2011

Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.

Skordis N et al.

Hormone Research in Paediatrics, 2011

Impact of molecular genetics on congenital adrenal hyperplasia management.

Balsamo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010

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

Coeli FB et al.

Bmc Medical Genetics, 2010

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Neocleous V et al.

Clinical Biochemistry, 2009

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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."