Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.C186fs
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LEPR

NM_002303.6:p.C186fs

Associated Papers

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

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

Kleinendorst L et al.

European Journal of Endocrinology, 2020

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

Nunziata A et al.

Journal of the Endocrine Society, 2019

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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."