Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.R775H
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AR

NM_000044.6:p.R775H

Associated Papers

A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.

Uslu IN et al.

Current Issues in Molecular Biology, 2025

The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.

Ding L et al.

Orphanet Journal of Rare Diseases, 2025

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

Globa E et al.

Frontiers in Endocrinology, 2022

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.

Heo YJ et al.

Annals of Pediatric Endocrinology & Metabolism, 2018

Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD.

Ramos L et al.

Gene, 2018

Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

Doehnert U et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

Akcay T et al.

Andrology, 2014

Androgen insensitivity syndrome.

Hughes IA et al.

Seminars in Reproductive Medicine, 2012

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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."