Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.G49Splc
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CYP19A1

NM_000103.4:p.G49Splc

Associated Papers

Genetics of Congenital Adrenal Hyperplasia.

Hannah-Shmouni F et al.

Endocrinology and Metabolism Clinics of North America, 2017

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

Tardy V et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Genetics of congenital adrenal hyperplasia.

Krone N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2009

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

Menassa R et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

[deficiency of growth hormone in children. Re-evaluation after therapeutic completion].

Martins T et al.

Acta Medica Portuguesa, 0

[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].

Vieira A et al.

Acta Medica Portuguesa, 0

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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."