Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.A871V
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AR

NM_000044.6:p.A871V

Associated Papers

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

Yuan Z et al.

European Journal of Endocrinology, 2024

Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms.

Venizelos A et al.

Endocrine-related Cancer, 2023

Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea.

Kapama A et al.

Children (basel, Switzerland), 2022

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.

Kumar A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.

Zhu H et al.

Orphanet Journal of Rare Diseases, 2021

Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant.

Chen L et al.

Frontiers in Genetics, 2021

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.

Zhang W et al.

Molecular Genetics & Genomic Medicine, 2019

Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.

Lek N et al.

Ebiomedicine, 2018

Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.

Su L et al.

Andrologia, 2017

Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.

Chan AO et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2015

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."