Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.P893L
Back to variants list

AR

NM_000044.6:p.P893L

Associated Papers

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

[A case of complete androgen insensitivity syndrome with special family history and its genetic analysis].

Wang YH et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2022

Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.

Chen G et al.

Andrologia, 2022

Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report.

Wang KN et al.

World Journal of Clinical Cases, 2021

Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor.

Izawa M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021

Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome.

Shao J et al.

Intractable & Rare Diseases Research, 2015

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

Androgen insensitivity syndrome.

Hughes IA et al.

Seminars in Reproductive Medicine, 2012

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.

Yuan SM et al.

Asian Journal of Andrology, 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."