Associated Papers
Pathogenic variants in the fibronectin type III domain of leptin receptor: Molecular dynamics simulation and structural analysis.
Kato T et al.
Journal of Molecular Graphics & Modelling, 2025
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
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp2-LEPR.xlsx › Sheet1
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst L et al.
European Journal of Endocrinology, 2020
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