Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.S141A
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LEP

NM_000230.3:p.S141A

Associated Papers

Structural and functional characterization of the Pro64Ser leptin mutant: Implications for congenital leptin deficiency.

Ngo BQ et al.

Biophysical Journal, 2025

A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.

Baird HJM et al.

The Journal of Biological Chemistry, 2024

ENU mutagenesis identifies mice with morbid obesity and severe hyperinsulinemia caused by a novel mutation in leptin.

Hong CJ et al.

Plos One, 2010

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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."