Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.D768fs
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AR

NM_000044.6:p.D768fs

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

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."