Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.G133V
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LEP

NM_000230.3:p.G133V

Associated Papers

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

Estimated prevalence of potentially damaging variants in the leptin gene.

Nunziata A et al.

Molecular and Cellular Pediatrics, 2017

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

Funcke JB et al.

Molecular and Cellular Pediatrics, 2014

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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."