Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.K38*
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NR5A1

NM_004959.5:p.K38*

Associated Papers

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.

Fabbri HC et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.

Shi JW 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."