Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.V269D
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NR0B1

NM_000475.5:p.V269D

Associated Papers

X-linked Adrenal Hypoplasia Congenita Due to NR0B1 (DAX1) Deficiency Presenting as Severe Respiratory Distress in Near Term Infants.

Karsli T et al.

Pediatrics and Neonatology, 2016

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

El-Khairi R et al.

Endocrine Development, 2011

Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.

Okuhara K et al.

Endocrine Journal, 2008

[Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].

Okuhara K

[hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science, 2004

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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."