Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R365P
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NR5A1

NM_004959.5:p.R365P

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

Steroidogenic factor-1 (SF-1, NR5A1) and human disease.

Ferraz-de-Souza B et al.

Molecular and Cellular Endocrinology, 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."