Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.Q307*
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LEPR

NM_002303.6:p.Q307*

Associated Papers

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside.

Höpfner F et al.

Life (basel, Switzerland), 2022

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.

Brumm H et al.

Obesity (silver Spring, Md.), 2012

Identification and functional characterization of novel mutations in the melanocortin-4 receptor.

Beckers S et al.

Obesity Facts, 2010

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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."