Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C326delFs
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MC4R

NM_005912.3:p.C326delFs

Associated Papers

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

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

Melanocortin 3 receptor gene and melanocortin 4 receptor gene mutations: the Asian Perspective.

Lee YS

Diabetes/metabolism Research and Reviews, 2012

The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature.

Lee YS

Annals of the Academy of Medicine, Singapore, 2009

Novel melanocortin 4 receptor gene mutations in severely obese children.

Lee YS et al.

Clinical Endocrinology, 2008

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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."