Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.G102delFs
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NR0B1

NM_000475.5:p.G102delFs

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

A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.

Gerards J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2017

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.

Galeotti C et al.

Plos One, 2012

Sibling cases of Addison's disease caused by DAX-1 gene mutations.

Sekiguchi Y et al.

Internal Medicine (tokyo, Japan), 2007

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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."