Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q222*
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NR0B1

NM_000475.5:p.Q222*

Associated Papers

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.

Wu SM et al.

Current Medical Science, 2020

Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.

Li N et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."