Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.R40delFs
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AR

NM_000044.6:p.R40delFs

Associated Papers

Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.

Ramos RM et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome.

Cheng Y et al.

Bioscience Reports, 2020

Androgen insensitivity syndrome.

Gulía C et al.

European Review for Medical and Pharmacological Sciences, 2018

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family.

Decaestecker K et al.

Fertility and Sterility, 2008

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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."