Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.R425S
Back to variants list

NR0B1

NM_000475.5:p.R425S

Associated Papers

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Zheng W et al.

Orphanet Journal of Rare Diseases, 2023

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].

García-Medina JS et al.

Andes Pediatrica : Revista Chilena De Pediatria, 2022

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."