Article

Prevalence Estimates of Putatively Pathogenic Leptin Variants in the gnomAD Database

2022-03-25

Abstract excerpt

Homozygosity for pathogenic variants in the leptin gene leads to congenital leptin deficiency causing early-onset extreme obesity. This monogenic form of obesity has mainly been detected in patients from consanguineous families. Prevalence estimates for the general population using the Exome Aggregation Consortium (ExAC) database reported a low frequency of leptin mutations. One in approximately 15 million individ...

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Literature Corpus work: 8b2a6352-5abd-54b0-80d5-655e7ccd56c6
DOI: 10.1101/2022.03.25.485774

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