Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.V145E
Back to variants list

LEP

NM_000230.3:p.V145E

Associated Papers

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.

Yupanqui-Lozno H et al.

Genes, 2019

Biologically inactive leptin and early-onset extreme obesity.

Wabitsch M et al.

The New England Journal of Medicine, 2015

Monogenic forms of childhood obesity due to mutations in the leptin gene.

Funcke JB et al.

Molecular and Cellular Pediatrics, 2014

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

Loh NY et al.

Plos One, 2013

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

Hong CJ et al.

Plos One, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."