Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.L161delFs
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LEP

NM_000230.3:p.L161delFs

Associated Papers

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

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

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

Mazen I et al.

Molecular Genetics and Metabolism Reports, 2014

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."