Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.W625*
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LEPR

NM_002303.6:p.W625*

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

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

Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency.

Zorn S et al.

Molecular and Cellular Pediatrics, 2020

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

Kleinendorst L et al.

European Journal of Endocrinology, 2020

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.

Kohlsdorf K et al.

International Journal of Obesity (2005), 2018

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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."