Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.Q59*
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AR

NM_000044.6:p.Q59*

Associated Papers

Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management.

Marczak E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome.

Jiang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

Dong Y et al.

Bmc Medical Genetics, 2016

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.

Appari M et al.

Journal of Molecular Medicine (berlin, Germany), 2009

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus PM et al.

Bmc Genomics, 2007

Puberty in subjects with complete androgen insensitivity syndrome.

Papadimitriou DT et al.

Hormone Research, 2006

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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."