Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.R228C
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GNAS

NM_000516.7:p.R228C

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.

Mohammed I et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

Mendes de Oliveira E et al.

The New England Journal of Medicine, 2021

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

Hendricks AE et al.

Scientific Reports, 2017

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.

Tam VH et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2014

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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."