Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R69P
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NR5A1

NM_004959.5:p.R69P

Associated Papers

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.

Damji RK et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2023

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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."