Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.G117G
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NR5A1

NM_004959.5:p.G117G

Associated Papers

A Novel Variant in NR5A1 Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature.

Shah S et al.

Jcem Case Reports, 2025

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.

Hu SC et al.

Genetics and Molecular Research : Gmr, 2012

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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."