Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.S108*
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NR0B1

NM_000475.5:p.S108*

Associated Papers

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene.

Bravo Nieto D et al.

Advances in Laboratory Medicine, 2023

Genetic aetiology of primary adrenal insufficiency in Chinese children.

Chang Z et al.

Bmc Medical Genomics, 2021

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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."