Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.E773Splc
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AR

NM_000044.6:p.E773Splc

Associated Papers

Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis.

Li C et al.

Gene, 2023

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

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

A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.

Vasu VR et al.

Genetic Testing and Molecular Biomarkers, 2012

Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.

Akella RR

Indian Journal 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."