Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q404*
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NR0B1

NM_000475.5:p.Q404*

Associated Papers

Are human male patients with DAX1/NR0B1 mutations infertile?

Ravel C et al.

Annales D'endocrinologie, 2014

Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

Walker AP et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.

Frapsauce C et al.

Human Reproduction (oxford, England), 2011

Genetic disorders involving adrenal development.

Lin L et al.

Endocrine Development, 2007

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

Lin L et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."