Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R22*
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MC4R

NM_005912.3:p.R22*

Associated Papers

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

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

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Serra-Juhé C et al.

International Journal of Obesity (2005), 2020

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Kleinendorst L et al.

Journal of Medical Genetics, 2018

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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."