Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.S1090fs
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LEPR

NM_002303.6:p.S1090fs

Associated Papers

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed S et al.

Cell Reports. Medicine, 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

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-5

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Saeed S et al.

Diabetes, 2020

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

Kleinendorst L et al.

European Journal of Endocrinology, 2020

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity.

Niazi RK et al.

Bmc Medical Genetics, 2018

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."