Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L262P
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NR0B1

NM_000475.5:p.L262P

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

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 DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Battistin C et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.

Guoying C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.

Li N et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

[Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita].

Xiao Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."