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A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene

26 Aug 2021

Abstract excerpt

Leptin (LEP) and leptin receptor (LEPR) play a major role in energy homeostasis, metabolism, and reproductive function. While effects of biallelic likely pathogenic variants (-/-) on the phenotype are well characterized, effects of mono-allelic likely pathogenic variants (wt/-) in the LEP and LEPR gene on the phenotype compared to wild-type homozygosity (wt/wt) have not been systematically investigated. We...

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PMID: 34448070
DOI: 10.1186/s40348-021-00119-7

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