Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.C117F
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LEP

NM_000230.3:p.C117F

Associated Papers

One-year metreleptin in Colombian sisters with congenital leptin deficiency.

Yupanqui-Lozno H et al.

Adipocyte, 2025

Response to long-term pharmacological management of metreleptin in a patient with monogenic obesity due to mutation in the LEP gene.

O'Meara Novoa MA et al.

Cardiovascular Diabetology. Endocrinology Reports, 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

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.

Li H et al.

Molecular Genetics and Metabolism Reports, 2024

A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.

Besci Ö et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

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 Signaling in Obesity and Colorectal Cancer.

Socol CT et al.

International Journal of Molecular Sciences, 2022

A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

Koerber-Rosso I et al.

Molecular and Cellular Pediatrics, 2021

When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.

Salum KCR et al.

Frontiers in Endocrinology, 2021

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.

Yupanqui-Lozno H et al.

Genes, 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."