Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L386delFs
Back to variants list

NR0B1

NM_000475.5:p.L386delFs

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

A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.

Heo S et al.

Annals of Pediatric Endocrinology & Metabolism, 2024

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

Choi JH et al.

Metabolism: Clinical and Experimental, 2011

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

Choi JH et al.

Hormone Research, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."