Functional characterization of all missense variants in LEPR, PCSK1 , and POMC genes arising from single-nucleotide variants.
Expert review of endocrinology & metabolism(2023)
Abstract
The functional data provided here can assist in the reclassification of several VUS in , and and highlight their impact in MC4R pathway diseases.
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Key words
Functional assays,melanocortin signaling,monogenic obesity,variants,variants of uncertain significance
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