Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.C186delFs
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LEPR

NM_002303.6:p.C186delFs

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

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Mazen IH et al.

Molecular Genetics and Genomics : Mgg, 2023

Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.

Kleinendorst L et al.

European Journal of Endocrinology, 2020

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

Nunziata A et al.

Journal of the Endocrine Society, 2019

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.st1.xlsx › Supp_Table3A

Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.

Saeed S et al.

Obesity (silver Spring, Md.), 2018

Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.

Gill R et al.

Obesity (silver Spring, Md.), 2014

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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."