Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.P333_L334insFs
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NR0B1

NM_000475.5:p.P333_L334insFs

Associated Papers

Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review.

Wang Y et al.

Experimental and Therapeutic Medicine, 2022

A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism.

Wang CL et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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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."