Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.L161fs
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LEP

NM_000230.3:p.L161fs

Associated Papers

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed S et al.

Cell Reports. Medicine, 2023

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 fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

Koerber-Rosso I et al.

Molecular and Cellular Pediatrics, 2021

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."