Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y21_R22delFs
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MC4R

NM_005912.3:p.Y21_R22delFs

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

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.

Dosda S et al.

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

38779716 (PubMed )
Supplement: supplement_1.pdf

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed S et al.

Cell Reports. Medicine, 2023

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Saeed S et al.

Diabetes, 2020

A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.

Khadilkar V et al.

Indian Journal of Pediatrics, 2020

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
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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."