Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.D124G
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LEPR

NM_002303.6:p.D124G

Associated Papers

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

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

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

Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.

Gandhi Muruganandhan S et al.

Journal of Cellular Biochemistry, 2019

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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."