Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.E126Q
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LEP

NM_000230.3:p.E126Q

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

ENU mutagenesis identifies mice with morbid obesity and severe hyperinsulinemia caused by a novel mutation in leptin.

Hong CJ et al.

Plos One, 2010

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

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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."