Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.I35S
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LEP

NM_000230.3:p.I35S

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

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.

Li H et al.

Molecular Genetics and Metabolism Reports, 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

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Mazen IH et al.

Molecular Genetics and Genomics : Mgg, 2023

The genetic elucidation of monogenic obesity in the Arab world: a systematic review.

AbouHashem N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

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

Rajcsanyi LS et al.

Plos One, 2022

36121795 (PubMed )
Supplement: pone.0266642.s003.pdf

Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

Younes S et al.

International Journal of Obesity (2005), 2021

When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.

Salum KCR et al.

Frontiers in Endocrinology, 2021

Monogenic leptin deficiency in early childhood obesity.

ElSaeed G et al.

Pediatric Obesity, 2020

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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."