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Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

Homozygosity for pathogenic variants in the leptin gene leads to congenital leptin deficiency causing severe early-onset obesity. This monogenic form of obesity has mainly been detected in patients from consanguineous families. Prevalence estimates for the general population using the Exome Aggregat...

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Detalles Bibliográficos
Autores principales: Rajcsanyi, Luisa Sophie, Zheng, Yiran, Fischer-Posovszky, Pamela, Wabitsch, Martin, Hebebrand, Johannes, Hinney, Anke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484668/
https://www.ncbi.nlm.nih.gov/pubmed/36121795
http://dx.doi.org/10.1371/journal.pone.0266642