Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.W172*
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NR0B1

NM_000475.5:p.W172*

Associated Papers

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.

Bernard P et al.

Molecular Genetics and Metabolism, 2006

A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Wang J et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 1999

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Bassett JH et al.

Clinical Endocrinology, 1999

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

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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."