Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.S343S
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LEPR

NM_002303.6:p.S343S

Associated Papers

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

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.st1.xlsx › Supp_Table3A

Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.

Huvenne H et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.

Albuquerque D et al.

Annals of Human Genetics, 2014

Linkages and associations between the leptin receptor (LEPR) gene and human body composition in the Québec Family Study.

Chagnon YC et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 1999

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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."