Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q155*
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NR0B1

NM_000475.5:p.Q155*

Associated Papers

Primary adrenal insufficiency and hypogonadotropic hypogonadism associated with NR0B1 (DAX1) gene nonsense mutation (p.Gln155*) in a patient with empty sellae syndrome.

Szatko A et al.

Polish Archives of Internal Medicine, 2025

Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.

Evliyaoğlu O et al.

Journal of Clinical Research in Pediatric Endocrinology, 2013

Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.

Darcan S et al.

Hormone Research in Paediatrics, 2011

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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."