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Functional characterization of all missense variants in LEPR, PCSK1 , and POMC genes arising from single-nucleotide variants.

Bhavik P Shah,Patrick M Sleiman, Jessica Mc Donald,Ida H Moeller,Patrick Kleyn

Expert review of endocrinology & metabolism（2023）

Cited 1|Views14
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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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