Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.R216H
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NR0B2

NM_021969.3:p.R216H

Associated Papers

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.

Enya M et al.

Human Mutation, 2008

Orphan nuclear receptor small heterodimer partner, a novel corepressor for a basic helix-loop-helix transcription factor BETA2/neuroD.

Kim JY et al.

Molecular Endocrinology (baltimore, Md.), 2004

Differential regulation of the orphan nuclear receptor small heterodimer partner (SHP) gene promoter by orphan nuclear receptor ERR isoforms.

Sanyal S et al.

The Journal of Biological Chemistry, 2002

Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

Nishigori H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2001

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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."