Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Y81*
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NR0B1

NM_000475.5:p.Y81*

Associated Papers

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.

Yu T et al.

Molecular Medicine Reports, 2016

X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.

Pereira BD et al.

Archives of Endocrinology and Metabolism, 2015

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Zhang YH et al.

Human Mutation, 2001

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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."