Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.P30L
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NR0B1

NM_000475.5:p.P30L

Associated Papers

A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Liu M et al.

Medicine, 2020

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Hannah-Shmouni F et al.

Reviews in Endocrine & Metabolic Disorders, 2018

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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."