Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q252*
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NR0B1

NM_000475.5:p.Q252*

Associated Papers

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.

Chan LF et al.

Frontiers in Endocrinology, 2015

Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.

Choi JH et al.

Metabolism: Clinical and Experimental, 2011

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK et al.

Human Mutation, 2001

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

Zhang YH et al.

American Journal of Human Genetics, 1998

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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."