Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Y378C
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NR0B1

NM_000475.5:p.Y378C

Associated Papers

Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a Novel NR0B1 Variant: A Case Report.

Kim SH et al.

Children (basel, Switzerland), 2025

Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.

Zhu F et al.

Frontiers in Endocrinology, 2022

Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.

Vargas MCC et al.

Bmc Endocrine Disorders, 2020

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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."