Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.W752G
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AR

NM_000044.6:p.W752G

Associated Papers

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Hage M et al.

Andrologia, 2021

A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation.

Liu C et al.

Molecular Genetics and Genomics : Mgg, 2020

Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome.

Paris F et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2018

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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."