Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.D696N
Back to variants list

AR

NM_000044.6:p.D696N

Associated Papers

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Hage M et al.

Andrologia, 2021

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

Jiménez-Panizo A et al.

Endocrine-related Cancer, 2019

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

Kolesinska Z et al.

Endocrine Connections, 2018

Structure of the homodimeric androgen receptor ligand-binding domain.

Nadal M et al.

Nature Communications, 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2

Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.

Petroli RJ et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014

Androgen insensitivity syndrome: a review.

Batista RL et al.

Archives of Endocrinology and Metabolism, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."