Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.P30L
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COX8A

NM_004074.3:p.P30L

Associated Papers

Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V2811 mutation in patients with premature pubarche.

Savas Erdeve S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

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

Coeli FB et al.

Bmc Medical Genetics, 2010

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

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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."