Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.T48Fs
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LEP

NM_000230.3:p.T48Fs

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

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

A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report.

Altawil AS et al.

Clinical Medicine Insights. Pediatrics, 2016

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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."