Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.E280D
Back to variants list

AKR1B1

NM_001628.4:p.E280D

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

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald A et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis.

Bhangoo A et al.

Asian Journal of Andrology, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."