Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.W291R
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NR0B1

NM_000475.5:p.W291R

Associated Papers

A patient with DAX1  mutation presenting with elevated testosterone in early infancy.

Ge J et al.

World Journal of Pediatrics : Wjp, 2019

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Kyriakakis N et al.

Pituitary, 2017

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.

Shima H et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

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

El-Khairi R et al.

Endocrine Development, 2011

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.

Yeste D et al.

European Journal of Pediatrics, 2009

Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.

Lehmann SG et al.

Human Molecular Genetics, 2003

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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."