Varaico: Literature-Extracted Genetic Variants

Gene:C4B
Variant:p.P482S
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C4B

NM_001002029.4:p.P482S

Associated Papers

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.

Neocleous V et al.

Indian Journal of Endocrinology and Metabolism, 2014

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.

Malikova J et al.

Clinical Endocrinology, 2012

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

Marino R et al.

Clinical Endocrinology, 2011

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

Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.

Caputo V et al.

Dermatology (basel, Switzerland), 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."