Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.R356H
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GNAS

NM_000516.7:p.R356H

Associated Papers

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

Mendes de Oliveira E et al.

The New England Journal of Medicine, 2021

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Otaify GA et al.

Bone, 2018

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE et al.

Scientific Reports, 2017

The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity.

Abbas A et al.

Mutation Research. Reviews in Mutation Research, 0

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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."