Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.P453S
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ATF6B

NM_004381.5:p.P453S

Associated Papers

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.

Neocleous V et al.

Indian Journal of Endocrinology and Metabolism, 2014

Mutation analysis of the CYP21A2 gene in the Iranian population.

Rabbani B et al.

Genetic Testing and Molecular Biomarkers, 2012

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

Skordis N et al.

Clinical Biochemistry, 2011

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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."