Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.G329E
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NR0B1

NM_000475.5:p.G329E

Associated Papers

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.

Wu SM et al.

Current Medical Science, 2020

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

Phelan JK et al.

Human Mutation, 2001

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.

Seminara SB et al.

Endocrine Reviews, 1998

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.

Habiby RL et al.

The Journal of Clinical Investigation, 1996

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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."