Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.N624insFs
Back to variants list

LEPR

NM_002303.6:p.N624insFs

Associated Papers

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

Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.

Kleinendorst L et al.

European Journal of Endocrinology, 2020

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

Bhatt A et al.

Molecular Genetics & Genomic Medicine, 2019

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

Nunziata A et al.

Journal of the Endocrine Society, 2019

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."