Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.R425T
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NR0B1

NM_000475.5:p.R425T

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

X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.

Lumaka A et al.

European Journal of Pediatrics, 2012

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

El-Khairi R et al.

Endocrine Development, 2011

Disorders of adrenal development.

Ferraz-de-Souza B et al.

Endocrine Development, 2008

Genetic disorders involving adrenal development.

Lin L et al.

Endocrine Development, 2007

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

Lin L et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.

Achermann JC et al.

The Journal of Clinical Endocrinology and Metabolism, 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."