Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.C16R
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NR5A1

NM_004959.5:p.C16R

Associated Papers

Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Zheng GY et al.

Journal of Endocrinological Investigation, 2023

A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia.

Zhang D et al.

Asian Journal of Andrology, 0

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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."