Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.Q49fs
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LEP

NM_000230.3:p.Q49fs

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

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

The genetic elucidation of monogenic obesity in the Arab world: a systematic review.

AbouHashem N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report.

Altawil AS et al.

Clinical Medicine Insights. Pediatrics, 2016

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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."