Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.S1014C
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LEPR

NM_002303.6:p.S1014C

Associated Papers

Monoallelic pathogenic variants in LEPR do not cause obesity.

Delplanque J et al.

American Journal of Human Genetics, 2024

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

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."