Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.C202delFs
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NR0B1

NM_000475.5:p.C202delFs

Associated Papers

Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a Novel NR0B1 Variant: A Case Report.

Kim SH et al.

Children (basel, Switzerland), 2025

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Zheng W et al.

Orphanet Journal of Rare Diseases, 2023

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.

Wu SM et al.

Current Medical Science, 2020

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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."