Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.P167delFs
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NR5A1

NM_004959.5:p.P167delFs

Associated Papers

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

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

Phelan JK et al.

Human Mutation, 2001

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.

Reutens AT et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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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."