Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.W752R
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AR

NM_000044.6:p.W752R

Associated Papers

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

Computational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases.

Chen F et al.

Scientific Reports, 2020

Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.

Jiménez-Panizo A et al.

Endocrine-related Cancer, 2019

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

Structure of the homodimeric androgen receptor ligand-binding domain.

Nadal M et al.

Nature Communications, 2017

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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."