Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I198I
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MC4R

NM_005912.3:p.I198I

Associated Papers

The Outcome of Metabolic and Bariatric Surgery in Morbidly Obese Patients with Different Genetic Variants Associated with Obesity: A Systematic Review.

Zafirovska M et al.

Nutrients, 2024

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Salum KCR et al.

Frontiers in Genetics, 2020

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.

da Fonseca ACP et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2019

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.

Drabkin M et al.

Bmc Medical Genetics, 2018

Analysis of the Impact of Common Polymorphisms of the FTO and MC4R Genes with the Risk of Severe Obesity in Saudi Arabian Population.

Cyrus C et al.

Genetic Testing and Molecular Biomarkers, 2018

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

[Obesity caused by melanocortin-4 receptor mutations].

van den Berg L et al.

Nederlands Tijdschrift Voor Geneeskunde, 2012

Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.

van den Berg L et al.

Obesity (silver Spring, Md.), 2011

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2007

Melanocortin-4 receptor gene and complications after gastric banding.

Peterli R et al.

Obesity Surgery, 2006

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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."