Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.P210delFs
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NR5A1

NM_004959.5:p.P210delFs

Associated Papers

Disorders of Sex Development: Classification, Review, and Impact on Fertility.

Acién P et al.

Journal of Clinical Medicine, 2020

Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.

Pan S et al.

Journal of Assisted Reproduction and Genetics, 2020

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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."