Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.W236*
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NR0B1

NM_000475.5:p.W236*

Associated Papers

A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.

Mastoropoulou A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Guran T et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation.

Holzinger A et al.

Klinische Padiatrie, 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."