Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.G93D
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NR0B2

NM_021969.3:p.G93D

Associated Papers

Targeting orphan nuclear receptor SHP in the treatment of metabolic diseases.

Kim MK et al.

Expert Opinion on Therapeutic Targets, 2010

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

Enya M et al.

Human Mutation, 2008

Medical sequencing at the extremes of human body mass.

Ahituv N et al.

American Journal of Human Genetics, 2007

Unveiling hidden features of orphan nuclear receptors: the case of the small heterodimer partner (SHP).

Macchiarulo A et al.

Journal of Molecular Graphics & Modelling, 2006

Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

Echwald SM et al.

Human Mutation, 2004

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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."