Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.Y764H
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AR

NM_000044.6:p.Y764H

Associated Papers

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.

Geng H et al.

Bmc Medical Genomics, 2024

Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study.

Aghaei S et al.

Journal of Biomolecular Structure & Dynamics, 2023

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

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

Jiménez-Panizo A et al.

Endocrine-related Cancer, 2019

Structure of the homodimeric androgen receptor ligand-binding domain.

Nadal M et al.

Nature Communications, 2017

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.

Yuan SM et al.

Asian Journal of Andrology, 0

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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."