Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.V41G
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NR5A1

NM_004959.5:p.V41G

Associated Papers

Mutation update for the NR5A1 gene involved in DSD and infertility.

Fabbri-Scallet H et al.

Human Mutation, 2020

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

A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure.

Tajima T et al.

Endocrine Journal, 2009

Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.

Shi JW 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."