Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.E428*
Back to variants list

NR0B1

NM_000475.5:p.E428*

Associated Papers

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

Phelan JK et al.

Human Mutation, 2001

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Zhang YH 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."