Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.Y18C
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LEP

NM_000230.3:p.Y18C

Associated Papers

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

36121795 (PubMed )
Supplement: pone.0266642.s001.xlsx › Leptin_gnomAD_v2.1.1_ENSG000001

A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

Koerber-Rosso I et al.

Molecular and Cellular Pediatrics, 2021

Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

Nordang GBN et al.

Molecular Genetics and Metabolism, 2017

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.

Ayers KL et al.

Human Genomics, 2017

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