Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L365P
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NR0B1

NM_000475.5:p.L365P

Associated Papers

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

Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita.

Chung ST et al.

Jacobs Journal of Pediatrics, 2015

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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."