Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.C117S
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LEP

NM_000230.3:p.C117S

Associated Papers

Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.

Bouafi H et al.

Biomed Research International, 2019

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

Funcke JB et al.

Molecular and Cellular Pediatrics, 2014

The formation of an intrachain disulfide bond in the leptin protein is necessary for efficient leptin secretion.

Boute N et al.

Biochimie, 2004

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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."