Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q282*
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NR0B1

NM_000475.5:p.Q282*

Associated Papers

A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.

Heo S et al.

Annals of Pediatric Endocrinology & Metabolism, 2024

X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.

Abraham MB et al.

Indian Pediatrics, 2016

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.

Bergadá I et al.

Clinical Endocrinology, 2008

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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."