Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.S1090insFs
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LEPR

NM_002303.6:p.S1090insFs

Associated Papers

Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort.

Zhang BL et al.

Nature Communications, 2025

41027928 (PubMed )
Supplement: 41467_2025_63747_MOESM4_ESM.xlsx › Supplementary_Data_2

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

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India.

Bhatt A et al.

Molecular Genetics & Genomic Medicine, 2019

A new homozygous pathogenic LEPR variant causing severe, early onset obesity in a Senegalese child.

Deswarte V et al.

Obesity Research & Clinical Practice, 0

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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."