Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.E353A
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NR5A1

NM_004959.5:p.E353A

Associated Papers

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Gomes NL et al.

Clinical Endocrinology, 2018

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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."