Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.E2K
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AR

NM_000044.6:p.E2K

Associated Papers

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Tang Y et al.

Endocrine Connections, 2023

Vitamin K epoxide reductase regulation of androgen receptor activity.

Tew BY et al.

Oncotarget, 2017

Prediction of male-pattern baldness from genotypes.

Liu F et al.

European Journal of Human Genetics : Ejhg, 2016

Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.

Tadokoro-Cuccaro R et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

Audi L et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."