Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.R256W
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AKR1B1

NM_001628.4:p.R256W

Associated Papers

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

Yuan Z et al.

European Journal of Endocrinology, 2024

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

Wang Y et al.

Science China. Life Sciences, 2017

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Kim JH et al.

Molecular and Cellular Endocrinology, 2017

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L et al.

Endocrine Connections, 2014

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M et al.

Journal of Human Genetics, 1999

[Galactokinase deficiency].

Okano Y et al.

Ryoikibetsu Shokogun Shirizu, 1998

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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."