Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.W39delFs
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NR0B1

NM_000475.5:p.W39delFs

Associated Papers

A novel NR0B1 pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosterone.

Meireles AR et al.

Jcem Case Reports, 2026

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.

Seminara SB et al.

Endocrine Reviews, 1998

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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."