Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.V686A
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AR

NM_000044.6:p.V686A

Associated Papers

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 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

Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.

Peng Y et al.

Frontiers in Endocrinology, 2021

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA et al.

Endocrine Connections, 2019

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

Hornig NC et al.

Plos One, 2016

27110943 (PubMed )
Supplement: pone.0154158.s004.xlsx › Tabelle1

Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation.

Tordjman KM et al.

Andrologia, 2014

Androgen insensitivity syndrome: a review.

Batista RL et al.

Archives of Endocrinology and Metabolism, 0

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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."