Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L280R
Back to variants list

NR0B1

NM_000475.5:p.L280R

Associated Papers

Detection of protein structural hotspots using AI distillation and explainability: application to the DAX-1 protein.

Dumas N et al.

Nar Genomics and Bioinformatics, 2025

Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.

Lehmann SG et al.

Human Molecular Genetics, 2003

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK et al.

Human Mutation, 2001

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."