Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.S259P
Back to variants list

NR0B1

NM_000475.5:p.S259P

Associated Papers

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

Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Buonocore F et al.

Clinical Endocrinology, 2020

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

Suthiworachai C et al.

Journal of the Endocrine Society, 2019

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Kyriakakis N et al.

Pituitary, 2017

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

Oh CM et al.

Clinical Genetics, 2017

Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.

Wu CM et al.

Journal of Endocrinological Investigation, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."