Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R62L
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NR5A1

NM_004959.5:p.R62L

Associated Papers

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.

Nixon R et al.

Human Reproduction (oxford, England), 2017

Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.

Rocha VB et al.

Fertility and Sterility, 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."