Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.I35_K36del1
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LEP

NM_000230.3:p.I35_K36del1

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

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

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed S et al.

Cell Reports. Medicine, 2023

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

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

Rajcsanyi LS et al.

Plos One, 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

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Saeed S et al.

Diabetes, 2020

Estimated prevalence of potentially damaging variants in the leptin gene.

Nunziata A et al.

Molecular and Cellular Pediatrics, 2017

Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.

Wasim M et al.

Biochemical Genetics, 2016

Monogenic forms of childhood obesity due to mutations in the leptin gene.

Funcke JB et al.

Molecular and Cellular Pediatrics, 2014

A novel mutation of the leptin gene in an Indian patient.

Thakur S et al.

Clinical Genetics, 2014

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

Bonnefond A et al.

Diabetes Care, 2014

A novel mutation in the leptin gene (W121X) in an Egyptian family.

Mazen I et al.

Molecular Genetics and Metabolism Reports, 2014

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

Saeed S et al.

Molecular Genetics and Metabolism, 2012

Leptin deficiency and leptin gene mutations in obese children from Pakistan.

Fatima W et al.

International Journal of Pediatric Obesity : Ijpo : an Official Journal of the International Association for the Study of Obesity, 2011

[Recombinant DNA in the study of diabetes mellitus].

Pankov IuA

Molekuliarnaia Biologiia, 0

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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."