Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Y91*
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NR0B1

NM_000475.5:p.Y91*

Associated Papers

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.

Hattori A et al.

Biomolecules, 2023

Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

Dong Y et al.

Bmc Medical Genetics, 2016

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

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

Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.

Nakae J et al.

The Journal of Clinical Endocrinology and Metabolism, 1996

Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Guo W et al.

The Journal of Clinical Endocrinology and Metabolism, 1996

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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."