Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.E51delFs
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NR5A1

NM_004959.5:p.E51delFs

Associated Papers

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).

Teoli J et al.

Frontiers in Endocrinology, 2023

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."