Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.W105*
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NR0B1

NM_000475.5:p.W105*

Associated Papers

Can fetal ultrasound predict adrenal hypoplasia congenita caused by Xp21 deletion?

Yokohama Y et al.

The Journal of Obstetrics and Gynaecology Research, 2025

Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.

Choi JH et al.

Metabolism: Clinical and Experimental, 2011

An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.

Verrijn Stuart AA et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Choi JH et al.

Hormone Research, 2005

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.

Rojek A et al.

Hormones (athens, Greece), 0

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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."