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

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 g...

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Detalles Bibliográficos
Autores principales: Koerber-Rosso, Ingrid, Brandt, Stephanie, von Schnurbein, Julia, Fischer-Posovszky, Pamela, Hoegel, Josef, Rabenstein, Hannah, Siebert, Reiner, Wabitsch, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8390564/
https://www.ncbi.nlm.nih.gov/pubmed/34448070
http://dx.doi.org/10.1186/s40348-021-00119-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8390564/
https://www.ncbi.nlm.nih.gov/pubmed/34448070
http://dx.doi.org/10.1186/s40348-021-00119-7

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