Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.C99delFs
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LEPR

NM_002303.6:p.C99delFs

Associated Papers

Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.

Graves LE et al.

Journal of Paediatrics and Child Health, 2021

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_Table1A

Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.

Saeed S et al.

Obesity (silver Spring, Md.), 2018

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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."