Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I63_L64del2
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MC4R

NM_005912.3:p.I63_L64del2

Associated Papers

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

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