Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.S389N
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LEPR

NM_002303.6:p.S389N

Associated Papers

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Monoallelic pathogenic variants in LEPR do not cause obesity.

Delplanque J et al.

American Journal of Human Genetics, 2024

The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.

Melendez-Montañez JM et al.

Genes, 2024

38674329 (PubMed )
Supplement: genes-15-00394-s001.zip › Table_S1.pdf

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Serra-Juhé C et al.

International Journal of Obesity (2005), 2020

30926952 (PubMed )
Supplement: 41366_2019_357_MOESM6_ESM.xlsx › Suppl_2_Controls_RSVs

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf
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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."