Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.V94M
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LEP

NM_000230.3:p.V94M

Associated Papers

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.

Rajcsanyi LS et al.

Scientific Reports, 2024

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

Rajcsanyi LS et al.

Plos One, 2022

Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.

Courbage S et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.

da Fonseca ACP et al.

Eating and Weight Disorders : Ewd, 2021

Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.

Yaghootkar H et al.

Diabetes, 2020

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

Genetic association studies of obesity in Africa: a systematic review.

Yako YY et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2015

Association between polymorphisms in leptin, leptin receptor, and β-adrenergic receptor genes and bone mineral density in postmenopausal Korean women.

Lee HJ et al.

Menopause (new York, N.y.), 2014

Understanding mutations and protein stability through tripeptides.

Anishetty S et al.

Febs Letters, 2006

[The genetics of obesity].

Echwald SM et al.

Ugeskrift for Laeger, 2006

A polymorphic marker in the leptin gene associated with Japanese morbid obesity.

Ohshiro Y et al.

Journal of Molecular Medicine (berlin, Germany), 2000

Identification of two novel missense mutations in the human OB gene.

Echwald SM et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 1997

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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."