Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q22*
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NR0B1

NM_000475.5:p.Q22*

Associated Papers

Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism.

Hasegawa Y et al.

Journal of the Endocrine Society, 2021

A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.

Gerards J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2017

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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."