Varaico: Literature-Extracted Genetic Variants

Gene:C4B
Variant:p.G291S
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C4B

NM_001002029.4:p.G291S

Associated Papers

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

Baumgartner-Parzer SM et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC et al.

Endocrine Reviews, 2000

Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.

Bachega TA et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Mutations in steroid 21-hydroxylase (CYP21).

White PC et al.

Human Mutation, 1994

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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."