Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L297P
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NR0B1

NM_000475.5:p.L297P

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Kyriakakis N et al.

Pituitary, 2017

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

El-Khairi R et al.

Endocrine Development, 2011

Disorders of adrenal development.

Ferraz-de-Souza B et al.

Endocrine Development, 2008

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

Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.

Brown P et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."