Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.W369*
Back to variants list

NR0B1

NM_000475.5:p.W369*

Associated Papers

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

Phelan JK et al.

Human Mutation, 2001

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.

Seminara SB et al.

Endocrine Reviews, 1998

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

Zhang YH et al.

American Journal of Human Genetics, 1998

Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Nakae J et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

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."