Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q359*
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NR0B1

NM_000475.5:p.Q359*

Associated Papers

Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder.

Calliari LE et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2013

A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.

Calliari LE et al.

Genetics and Molecular Research : Gmr, 2007

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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."