Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.P767delFs
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AR

NM_000044.6:p.P767delFs

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

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

Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome.

Wu Q et al.

Clinical Genetics, 2018

Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.

He J et al.

Journal of Genetics, 2017

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

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.

Yu BQ et al.

Asian Journal of Andrology, 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."