Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.Y411del1
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LEPR

NM_002303.6:p.Y411del1

Associated Papers

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Künzel R et al.

International Journal of Obesity (2005), 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

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 Receptor Compound Heterozygosity in Humans and Animal Models.

Berger C et al.

International Journal of Molecular Sciences, 2021

Identification of a novel leptin receptor (LEPR) variant and proof of functional relevance directing treatment decisions in patients with morbid obesity.

Voigtmann F et al.

Metabolism: Clinical and Experimental, 2021

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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."