Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N72S
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MC4R

NM_005912.3:p.N72S

Associated Papers

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S1

Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.

van der Walle EEPL et al.

Obesity (silver Spring, Md.), 2025

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

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc1.pdf

Analysis of the SIM1 contribution to polygenic obesity in the French population.

Ghoussaini M et al.

Obesity (silver Spring, Md.), 2010

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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."