Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.D691del1
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AR

NM_000044.6:p.D691del1

Associated Papers

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Touzon MS et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.

Elfferich P et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

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."