Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.Q712E
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AR

NM_000044.6:p.Q712E

Associated Papers

Androgen insensitivity syndrome.

Gulía C et al.

European Review for Medical and Pharmacological Sciences, 2018

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

de Silva KS et al.

The Ceylon Medical Journal, 2015

Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.

Topcu V et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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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."