Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.C99Y
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LEPR

NM_002303.6:p.C99Y

Associated Papers

Clinical and Biological Phenotypes of Patients Carrying a Heterozygous Variant in Genes of Leptin-Melanocortin Signaling Pathway.

Dieterlen E et al.

Childhood Obesity (print), 2026

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

41451896 (PubMed )
Supplement: OBY-34-499-s001.xlsx › Variant_details

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

Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.

Courbage S et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."