Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.G59S
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LEP

NM_000230.3:p.G59S

Associated Papers

Structural and functional characterization of the Pro64Ser leptin mutant: Implications for congenital leptin deficiency.

Ngo BQ et al.

Biophysical Journal, 2025

IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.

Clément K et al.

Clinical Obesity, 2025

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.

Baird HJM et al.

The Journal of Biological Chemistry, 2024

Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity.

Funcke JB et al.

The New England Journal of Medicine, 2023

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

36121795 (PubMed )
Supplement: pone.0266642.s001.xlsx › Leptin_gnomAD_v2.1.1_ENSG000001

Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.

Bouafi H et al.

Biomed Research International, 2019

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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."