Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.E412*
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CYP19A1

NM_000103.4:p.E412*

Associated Papers

Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.

Zhu WJ et al.

Molecular and Cellular Endocrinology, 2016

Human models of aromatase deficiency.

Zirilli L et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2008

Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.

Belgorosky A et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."