Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.S54R
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NR5A1

NM_004959.5:p.S54R

Associated Papers

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

Fabbri-Scallet H et al.

Human Mutation, 2020

NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.

Voican A et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

Jiao X et al.

Plos One, 2013

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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."