Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.G123A
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NR0B1

NM_000475.5:p.G123A

Associated Papers

A missense mutation in NR5A1 causing female to male sex reversal: A case report.

Askari M et al.

Andrologia, 2020

Gene mutations associated with anomalies of human gonad formation.

Bashamboo A et al.

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

Steroidogenic factor-1 and human disease.

El-Khairi R et al.

Seminars in Reproductive Medicine, 2012

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

El-Khairi R et al.

Endocrine Development, 2011

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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."