Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.D732N
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AR

NM_000044.6:p.D732N

Associated Papers

Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients.

Vija L et al.

Bmc Endocrine Disorders, 2014

Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism.

Wu X et al.

Fertility and Sterility, 2010

Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome.

Hannema SE et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

The androgen receptor gene mutations database (ARDB): 2004 update.

Gottlieb B et al.

Human Mutation, 2004

Update of the androgen receptor gene mutations database.

Gottlieb B et al.

Human Mutation, 1999

Molecular genetics of human androgen insensitivity.

Brown TR et al.

European Journal of Pediatrics, 1993

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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."