Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q305*
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NR0B1

NM_000475.5:p.Q305*

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

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.

Rodríguez Estévez A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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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."