Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.E377Fs
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NR0B1

NM_000475.5:p.E377Fs

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

Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.

Esden-Tempska Z et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

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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."