Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S19delFs
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MC4R

NM_005912.3:p.S19delFs

Associated Papers

Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.

Luppino G et al.

Current Issues in Molecular Biology, 2026

Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres.

Morandi A et al.

Pediatric Obesity, 2024

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-4 receptor gene mutations in obese Slovak children.

Stanikova D et al.

Physiological Research, 2015

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.

Hainerová I et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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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."