Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.E377G
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NR0B1

NM_000475.5:p.E377G

Associated Papers

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Kyriakakis N et al.

Pituitary, 2017

Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

Walker AP et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK et al.

Human Mutation, 2001

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Zhang YH et al.

Human Mutation, 2001

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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."