Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.P205insFs
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NR5A1

NM_004959.5:p.P205insFs

Associated Papers

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

Mazen I et al.

American Journal of Medical Genetics. Part A, 2021

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

Mazen I et al.

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

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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."